3579 lines
No EOL
130 KiB
HTML
3579 lines
No EOL
130 KiB
HTML
<!DOCTYPE html>
|
||
|
||
|
||
|
||
|
||
<html lang="en" >
|
||
<head itemscope itemtype="http://schema.org/WebPage" prefix="og: http://ogp.me/ns#" >
|
||
<meta charset="UTF-8">
|
||
<meta http-equiv="X-UA-Compatible" content="IE=edge">
|
||
|
||
<!-- Mobile properties -->
|
||
<meta name="HandheldFriendly" content="True">
|
||
<meta name="MobileOptimized" content="320">
|
||
<meta name="viewport" content="width=device-width, initial-scale=1.0">
|
||
|
||
|
||
|
||
<link rel="preconnect" href="https://cdn.ncbi.nlm.nih.gov">
|
||
<link rel="preconnect" href="https://www.ncbi.nlm.nih.gov">
|
||
<link rel="preconnect" href="https://www.google-analytics.com">
|
||
|
||
|
||
|
||
<link rel="stylesheet" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/css/output.ba8099dd2df4.css" type="text/css">
|
||
|
||
|
||
<link rel="stylesheet" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/css/output.452c70ce66f7.css" type="text/css">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<link rel="stylesheet" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/css/output.7bf600913d6e.css" type="text/css">
|
||
|
||
|
||
|
||
|
||
|
||
<link rel="stylesheet" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/css/output.0bfa59184c7a.css" type="text/css">
|
||
|
||
|
||
|
||
|
||
<title>PURA-Related Neurodevelopmental Disorders - PubMed</title>
|
||
|
||
|
||
|
||
<link rel="preload" as="font" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/uswds/dist/fonts/merriweather-bold-webfont.woff2" type="font/woff2" crossorigin />
|
||
|
||
|
||
|
||
<!-- Favicons -->
|
||
<link rel="shortcut icon" type="image/ico" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon.ico" />
|
||
<link rel="icon" type="image/png" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon.png" />
|
||
|
||
<!-- 192x192, as recommended for Android
|
||
http://updates.html5rocks.com/2014/11/Support-for-theme-color-in-Chrome-39-for-Android
|
||
-->
|
||
<link rel="icon" type="image/png" sizes="192x192" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon-192.png" />
|
||
|
||
<!-- 57x57 (precomposed) for iPhone 3GS, pre-2011 iPod Touch and older Android devices -->
|
||
<link rel="apple-touch-icon-precomposed" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon-57.png">
|
||
<!-- 72x72 (precomposed) for 1st generation iPad, iPad 2 and iPad mini -->
|
||
<link rel="apple-touch-icon-precomposed" sizes="72x72" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon-72.png">
|
||
<!-- 114x114 (precomposed) for iPhone 4, 4S, 5 and post-2011 iPod Touch -->
|
||
<link rel="apple-touch-icon-precomposed" sizes="114x114" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon-114.png">
|
||
<!-- 144x144 (precomposed) for iPad 3rd and 4th generation -->
|
||
<link rel="apple-touch-icon-precomposed" sizes="144x144" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon-144.png">
|
||
|
||
|
||
<!-- For Pinger + Google Optimize integration (NS-820) -->
|
||
<meta name="ncbi_sg_optimize_id" content="">
|
||
|
||
<!-- Mobile browser address bar color -->
|
||
<meta name="theme-color" content="#20558a">
|
||
|
||
<!-- Preserve the Referrer when going from HTTPS to HTTP -->
|
||
<meta name="referrer" content="origin-when-cross-origin">
|
||
|
||
<meta name="ncbi_pinger_gtm_track" content="true"/>
|
||
<!-- Logging params: Pinger defaults -->
|
||
|
||
|
||
<meta name="ncbi_app" content="pubmed" />
|
||
|
||
|
||
|
||
<meta name="ncbi_db" content="pubmed" />
|
||
|
||
|
||
|
||
|
||
|
||
<meta name="ncbi_phid" content="CFA10001F781511500001BB031315E8B.1.m_6" />
|
||
|
||
|
||
|
||
<meta name="ncbi_pinger_stat_url" content="https://www.ncbi.nlm.nih.gov/stat" />
|
||
|
||
|
||
|
||
<meta name="log_category" content="literature" />
|
||
|
||
|
||
|
||
<meta name="ncbi_cost_center" content="pubmed" />
|
||
|
||
|
||
|
||
|
||
<!-- Logging params: Pinger custom -->
|
||
|
||
<meta name="ncbi_pdid" content="abstract" />
|
||
|
||
<meta name="log_op" content="retrieve" />
|
||
|
||
<meta name="uid" content="28448108" />
|
||
|
||
<meta name="ncbi_uid" content="28448108" />
|
||
|
||
<meta name="log_displayeduids" content="28448108" />
|
||
|
||
<meta name="log_source_db" content="pubmed,bookshelf" />
|
||
|
||
<meta name="log_icons_present" content="true" />
|
||
|
||
<meta name="ncbi_search_id" content="zwvBTdphdvChdSGpnye7zg:640b80c31bbcc9880e5c575eef62435c" />
|
||
|
||
<meta name="ncbi_adj_nav_search_id" content="TzCQ8OTRE1sOScS4BmCLyA:640b80c31bbcc9880e5c575eef62435c" />
|
||
|
||
|
||
|
||
|
||
<!-- Social meta tags for unfurling urls -->
|
||
|
||
<meta name="description" content="<span><i>PURA</i>-related neurodevelopmental disorders, caused by either a heterozygous <i>PURA</i> pathogenic sequence variant or a 5q31.3 deletion encompassing all or part of <i>PURA</i>, are inherited in an autosomal dominant manner. In almost all probands with a <i>PURA</i> pathogenic sequence variant</span> …"><meta name="keywords" content="pmid:28448108, NBK426063, Review, Margot RF Reijnders, Richard J Leventer, David Hunt, PubMed Abstract, NIH, NLM, NCBI, National Institutes of Health, National Center for Biotechnology Information, National Library of Medicine, MEDLINE"><meta name="robots" content="index,nofollow,noarchive"><meta property="og:title" content="PURA-Related Neurodevelopmental Disorders - PubMed"><meta property="og:url" content="https://pubmed.ncbi.nlm.nih.gov/28448108/"><meta property="og:description" content="<span><i>PURA</i>-related neurodevelopmental disorders, caused by either a heterozygous <i>PURA</i> pathogenic sequence variant or a 5q31.3 deletion encompassing all or part of <i>PURA</i>, are inherited in an autosomal dominant manner. In almost all probands with a <i>PURA</i> pathogenic sequence variant</span> …"><meta property="og:image" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg"><meta property="og:image:secure_url" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg"><meta property="og:type" content="website"><meta property="og:site_name" content="PubMed"><meta name="twitter:domain" content="pubmed.ncbi.nlm.nih.gov"><meta name="twitter:card" content="summary_large_image"><meta name="twitter:title" content="PURA-Related Neurodevelopmental Disorders - PubMed"><meta name="twitter:url" content="https://pubmed.ncbi.nlm.nih.gov/28448108/"><meta name="twitter:description" content="<span><i>PURA</i>-related neurodevelopmental disorders, caused by either a heterozygous <i>PURA</i> pathogenic sequence variant or a 5q31.3 deletion encompassing all or part of <i>PURA</i>, are inherited in an autosomal dominant manner. In almost all probands with a <i>PURA</i> pathogenic sequence variant</span> …"><meta name="twitter:image" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg">
|
||
|
||
|
||
<!-- OpenSearch XML -->
|
||
<link rel="search" type="application/opensearchdescription+xml" href="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/opensearch.xml" title="PubMed search">
|
||
|
||
<!-- Disables severely broken elements when no JS -->
|
||
<noscript>
|
||
<link rel="stylesheet" type="text/css" href="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/core/no-script.css">
|
||
</noscript>
|
||
|
||
|
||
|
||
<meta name="citation_title" content="PURA-Related Neurodevelopmental Disorders">
|
||
|
||
|
||
<meta name="citation_authors" content="Reijnders MRF;Leventer RJ;Lee BH;Baralle D;Selber P;Paciorkowski AR;Hunt D;">
|
||
|
||
|
||
|
||
|
||
<meta name="citation_date" content="1993">
|
||
|
||
|
||
|
||
<meta name="citation_journal_title" content="">
|
||
<meta name="citation_pmid" content="28448108">
|
||
<meta name="citation_abstract_html_url" content="https://pubmed.ncbi.nlm.nih.gov/28448108/">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<meta name="citation_doi" content="">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<link rel="canonical" href="https://pubmed.ncbi.nlm.nih.gov/28448108/" />
|
||
|
||
|
||
|
||
</head>
|
||
<body >
|
||
|
||
|
||
|
||
<noscript>
|
||
<div class="no-script-banner" id="no-script-banner">
|
||
<div class="warning-message">
|
||
<div class="warning-message-text">
|
||
This site needs JavaScript to work properly. Please enable it to take advantage of the complete set of features!
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</noscript>
|
||
|
||
<div class="no-session-banner" id="no-session-banner" hidden>
|
||
<div class="warning-message">
|
||
<div class="warning-message-text">
|
||
Clipboard, Search History, and several other advanced features are temporarily unavailable.
|
||
</div>
|
||
<button class="close-banner-button"
|
||
title="Close Clipboard and Search History not available warning banner"
|
||
ref="linksrc=close_no_session_banner"
|
||
aria-controls="no-session-banner"
|
||
aria-label="Close Clipboard and Search History not available warning banner"
|
||
aria-expanded="true">
|
||
</button>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
<a class="usa-skipnav" href="#article-details">
|
||
Skip to main page content
|
||
</a>
|
||
|
||
<!-- ========== BEGIN HEADER ========== -->
|
||
<section class="usa-banner">
|
||
<div class="usa-accordion">
|
||
<header class="usa-banner-header">
|
||
<div class="usa-grid usa-banner-inner">
|
||
<img src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/favicons/favicon-57.png" alt="U.S. flag" />
|
||
<p>An official website of the United States government</p>
|
||
<button
|
||
class="usa-accordion-button usa-banner-button"
|
||
aria-expanded="false"
|
||
aria-controls="gov-banner-top"
|
||
>
|
||
<span class="usa-banner-button-text">Here's how you know</span>
|
||
</button>
|
||
</div>
|
||
</header>
|
||
<div
|
||
class="usa-banner-content usa-grid usa-accordion-content"
|
||
id="gov-banner-top"
|
||
>
|
||
<div class="usa-banner-guidance-gov usa-width-one-half">
|
||
<img
|
||
class="usa-banner-icon usa-media_block-img"
|
||
src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/icon-dot-gov.svg"
|
||
alt="Dot gov"
|
||
/>
|
||
<div class="usa-media_block-body">
|
||
<p>
|
||
<strong>The .gov means it’s official.</strong>
|
||
<br />
|
||
Federal government websites often end in .gov or .mil. Before
|
||
sharing sensitive information, make sure you’re on a federal
|
||
government site.
|
||
</p>
|
||
</div>
|
||
</div>
|
||
<div class="usa-banner-guidance-ssl usa-width-one-half">
|
||
<img
|
||
class="usa-banner-icon usa-media_block-img"
|
||
src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/icon-https.svg"
|
||
alt="Https"
|
||
/>
|
||
<div class="usa-media_block-body">
|
||
<p>
|
||
<strong>The site is secure.</strong>
|
||
<br />
|
||
The <strong>https://</strong> ensures that you are connecting to the
|
||
official website and that any information you provide is encrypted
|
||
and transmitted securely.
|
||
</p>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</section>
|
||
<div class="usa-overlay"></div>
|
||
<header class="ncbi-header" role="banner" data-section="Header">
|
||
|
||
<div class="usa-grid">
|
||
<div class="usa-width-one-whole">
|
||
|
||
<div class="ncbi-header__logo">
|
||
<a href="https://www.ncbi.nlm.nih.gov/" class="logo" aria-label="NCBI Logo" data-ga-action="click_image" data-ga-label="NIH NLM Logo">
|
||
<img src="https://www.ncbi.nlm.nih.gov/coreutils/nwds/img/logos/AgencyLogo.svg" alt="NIH NLM Logo" />
|
||
</a>
|
||
</div>
|
||
|
||
<div class="ncbi-header__account">
|
||
<a id="account_login" href="https://account.ncbi.nlm.nih.gov" class="usa-button header-button" style="display:none" data-ga-action="open_menu" data-ga-label="account_menu">Log in</a>
|
||
<button id="account_info" class="header-button" style="display:none"
|
||
aria-controls="account_popup">
|
||
<span class="fa fa-user" aria-hidden="true"></span>
|
||
<span class="username desktop-only" aria-hidden="true" id="uname_short"></span>
|
||
<span class="sr-only">Show account info</span>
|
||
</button>
|
||
</div>
|
||
|
||
<div class="ncbi-popup-anchor">
|
||
<div class="ncbi-popup account-popup" id="account_popup" aria-hidden="true">
|
||
<div class="ncbi-popup-head">
|
||
<button class="ncbi-close-button" data-ga-action="close_menu" data-ga-label="account_menu"><span class="fa fa-times"></span><span class="usa-sr-only">Close</span></button>
|
||
<h4>Account</h4>
|
||
</div>
|
||
<div class="account-user-info">
|
||
Logged in as:<br/>
|
||
<b><span class="username" id="uname_long">username</span></b>
|
||
</div>
|
||
<div class="account-links">
|
||
<ul class="usa-unstyled-list">
|
||
<li><a id="account_myncbi" href="/myncbi/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_myncbi">Dashboard</a></li>
|
||
<li><a id="account_pubs" href="/myncbi/collections/bibliography/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_pubs">Publications</a></li>
|
||
<li><a id="account_settings" href="/account/settings/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_settings">Account settings</a></li>
|
||
<li><a id="account_logout" href="/account/signout/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_logout">Log out</a></li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
</header>
|
||
<div role="navigation" aria-label="access keys">
|
||
<a id="nws_header_accesskey_0" href="https://www.ncbi.nlm.nih.gov/guide/browsers/#ncbi_accesskeys" class="usa-sr-only" accesskey="0" tabindex="-1">Access keys</a>
|
||
<a id="nws_header_accesskey_1" href="https://www.ncbi.nlm.nih.gov" class="usa-sr-only" accesskey="1" tabindex="-1">NCBI Homepage</a>
|
||
<a id="nws_header_accesskey_2" href="/myncbi/" class="set-base-url usa-sr-only" accesskey="2" tabindex="-1">MyNCBI Homepage</a>
|
||
<a id="nws_header_accesskey_3" href="#maincontent" class="usa-sr-only" accesskey="3" tabindex="-1">Main Content</a>
|
||
<a id="nws_header_accesskey_4" href="#" class="usa-sr-only" accesskey="4" tabindex="-1">Main Navigation</a>
|
||
</div>
|
||
<section data-section="Alerts">
|
||
<div class="ncbi-alerts-placeholder"></div>
|
||
</section>
|
||
<!-- ========== END HEADER ========== -->
|
||
|
||
|
||
<a id="maincontent" aria-label="Main page content below" role="navigation"></a>
|
||
|
||
|
||
|
||
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="vmVafCL51Xqna7089s1MaxXREGs7UqCpM9FfSserBydR4y6YMLEOEFtvcKajN1aJ">
|
||
<form action="/" method="get" autocomplete="off" class="usa-search usa-search-big search-form content-page-layout" id="search-form" role="search">
|
||
<div class="inner-wrap">
|
||
<a class="pubmed-logo"
|
||
aria-label="Pubmed Logo"
|
||
href="/"
|
||
data-ga-category="featured_link"
|
||
data-ga-action="pubmed_logo">
|
||
|
||
|
||
<img src="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/core/images/pubmed-logo-blue.svg" alt="pubmed logo" />
|
||
|
||
</a>
|
||
|
||
<a href="#" class="search-input-trigger" data-alt-title="Hide search bar" title="Show search bar" aria-label="Show search bar">
|
||
</a>
|
||
|
||
<div role="search" class="search-input">
|
||
|
||
|
||
<div class="form-field ">
|
||
|
||
|
||
<label class="usa-sr-only" for="id_term">
|
||
Search:
|
||
</label>
|
||
|
||
|
||
|
||
<input
|
||
type="search"
|
||
name="term"
|
||
|
||
data-skip-ie-scroll-to-top=""
|
||
data-replace-term-with-exact=""
|
||
data-exact-query=""
|
||
placeholder=""
|
||
class="term-input"
|
||
required="required"
|
||
id="id_term"/><a href="#" class="clear-btn" aria-label="Clear search input" title="Clear search input" role="button" data-pinger-ignore></a><button type="submit" class="search-btn" aria-label="Search" disabled data-pinger-ignore><span class="usa-search-submit-text">Search</span></button>
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
</div>
|
||
|
||
<!-- Create alert and Create RSS are buttons that look like links -->
|
||
<!-- Better for them to look like buttons but no space -->
|
||
<div class="search-links-wrapper content-page-layout">
|
||
<div class="search-links">
|
||
<a href="/advanced/"
|
||
class="search-input-link adv-search-link"
|
||
data-ga-category="featured_link"
|
||
data-ga-action="adv_search">Advanced</a>
|
||
|
||
|
||
<a href="/clipboard/"
|
||
class="search-input-link clipboard-link hidden"
|
||
data-ga-category="featured_link"
|
||
data-ga-action="clipboard">
|
||
Clipboard <span class="amount-in-clipboard"></span>
|
||
</a>
|
||
</div>
|
||
|
||
<span class="search-input-link user-guide-link" role="navigation" aria-label="User guide">
|
||
<a href="/help/"
|
||
data-ga-category="featured_link"
|
||
data-ga-action="user_guide">
|
||
User Guide
|
||
</a>
|
||
</span>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
|
||
</form>
|
||
|
||
|
||
<div id="article-page-header">
|
||
<div id="article-top-actions-bar" class="article-top-actions-bar">
|
||
<div class="inner-wrap">
|
||
<div class="actions-container">
|
||
<div class="return-to-search">
|
||
|
||
|
||
</div>
|
||
|
||
<div class="multiple-results-actions " role="region" aria-label="save, email, send to">
|
||
<button id="save-results-panel-trigger"
|
||
type="button"
|
||
class="save-results save-results-panel-trigger"
|
||
aria-expanded="false"
|
||
aria-controls="save-action-panel"
|
||
data-ga-category="save_share"
|
||
data-ga-action="save"
|
||
data-ga-label="open">
|
||
Save
|
||
</button><button id="email-results-panel-trigger"
|
||
type="button"
|
||
class="email-results email-results-panel-trigger"
|
||
aria-expanded="false"
|
||
aria-controls="email-action-panel"
|
||
data-ga-category="save_share"
|
||
data-ga-action="email"
|
||
data-ga-label="open">
|
||
Email
|
||
</button><div class="more-actions dropdown-block"><button id="more-actions-trigger"
|
||
type="button"
|
||
class="trigger more-actions-trigger"
|
||
ref="linksrc=show_moreactions_btn"
|
||
aria-label="Send to"
|
||
aria-controls="more-actions-dropdown">Send to</button><div id="more-actions-dropdown" class="dropdown dropdown-container" hidden><div class="content"><ul class="more-actions-links"><li><a class="clipboard-panel-trigger dropdown-block-link "
|
||
href="#"
|
||
role="button"
|
||
data-ga-category="save_share"
|
||
data-ga-action="clipboard"
|
||
data-ga-label="send">
|
||
Clipboard
|
||
</a></li><li><a role="button" class="dropdown-block-link bibliography-trigger-target" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F28448108%2F%23open-bibliography-panel">My Bibliography</a></li><li><a role="button" class="dropdown-block-link collections-trigger-target" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F28448108%2F%23open-collections-panel">Collections</a></li><li><a role="button" class="citation-manager-panel-trigger dropdown-block-link citation-manager-trigger-target" href="#">Citation manager</a></li></ul></div></div></div>
|
||
</div>
|
||
|
||
|
||
|
||
<div class="display-options" data-format-key="format"
|
||
data-default-format-value="abstract"
|
||
data-current-format-value="abstract" role="region">
|
||
<button
|
||
class="trigger usa-button"
|
||
title="Change format"
|
||
data-ga-category="display_options"
|
||
data-ga-action="display_options_dialog">
|
||
<span class="button-label">Display options</span>
|
||
</button>
|
||
|
||
<div class="dropdown" hidden>
|
||
<div class="title">
|
||
Display options
|
||
</div>
|
||
|
||
<div class="content">
|
||
|
||
<div class="format-container">
|
||
<span class="option-label">
|
||
Format
|
||
</span>
|
||
<select name="format" data-initial-value="abstract" aria-label="Display format" id="article-display-format">
|
||
<option value="abstract">Abstract</option>
|
||
|
||
<option value="pubmed">PubMed</option>
|
||
|
||
<option value="pmid">PMID</option>
|
||
|
||
</select>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
</div>
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="vmVafCL51Xqna7089s1MaxXREGs7UqCpM9FfSserBydR4y6YMLEOEFtvcKajN1aJ">
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="article-panels-container" class="article-panels-container">
|
||
<div id="save-action-panel" class="save-action-panel action-panel" aria-hidden="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Save citation to file
|
||
</h2>
|
||
<form id="save-action-panel-form"
|
||
class="action-panel-content action-form"
|
||
action="/results-export-ids/"
|
||
data-by-search-action="/results-export-search-data/"
|
||
data-by-ids-action="/results-export-ids/"
|
||
method="post"
|
||
data-by-search-method="post"
|
||
data-by-ids-method="post">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="vmVafCL51Xqna7089s1MaxXREGs7UqCpM9FfSserBydR4y6YMLEOEFtvcKajN1aJ">
|
||
|
||
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="save-action-format" class="action-panel-label">
|
||
Format:
|
||
</label>
|
||
<select id="save-action-format" name="results-format" class="action-panel-selector">
|
||
<option value="summary-text">Summary (text)</option>
|
||
<option value="pubmed-text">PubMed</option>
|
||
<option value="pmid">PMID</option>
|
||
<option value="abstract">Abstract (text)</option>
|
||
<option value="csv">CSV</option>
|
||
</select>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Saving..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="save"
|
||
data-ga-label="save">
|
||
Create file
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Save citations to file' panel"
|
||
ref="linksrc=close_save_panel"
|
||
aria-controls="save-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="save"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div id="email-action-panel"
|
||
class="email-action-panel action-panel"
|
||
aria-hidden="true"
|
||
data-recaptcha-script-url="https://www.recaptcha.net/recaptcha/enterprise.js?render=explicit&onload=onloadCaptchaCallback"
|
||
data-recaptcha-enabled="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Email citation
|
||
</h2>
|
||
<form id="email-action-panel-form"
|
||
class="action-panel-content action-form"
|
||
action="/send-email/"
|
||
data-by-search-action="/results-export-email-by-search-data/"
|
||
data-by-ids-action="/send-email/"
|
||
data-by-search-method="post"
|
||
data-by-ids-method="post"
|
||
method="post"
|
||
>
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="vmVafCL51Xqna7089s1MaxXREGs7UqCpM9FfSserBydR4y6YMLEOEFtvcKajN1aJ">
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<span class="action-panel-label">
|
||
Subject:
|
||
</span>
|
||
<span class="email-subject" id="email-subject" aria-label="Email subject">1 selected item: 28448108 - PubMed</span>
|
||
<input type="hidden" name="email-subject" value="1 selected item: 28448108"/>
|
||
<input type="hidden" name="email-subject-hash" value="23ba61cd04585e8d1f1c39ded5d9cc1fbb2379c1d2549fa0df389a8110497c5d"/>
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="email-to" class="action-panel-label required-field-asterisk">
|
||
To:
|
||
</label>
|
||
<input type="email" aria-label="Recipient Email Address" placeholder="email@example.com" id="email-to" class="email-to" pattern="^[a-zA-Z0-9_.+-]+@[a-zA-Z0-9-]+\.[a-zA-Z0-9-.]+$" maxlength="100" required>
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="email-from" class="action-panel-label">
|
||
From:
|
||
</label>
|
||
<input type="email" aria-label="Sender Email Address" placeholder="email@example.com" id="email-from" class="email-from" pattern="^[a-zA-Z0-9_.+-]+@[a-zA-Z0-9-]+\.[a-zA-Z0-9-.]+$" maxlength="256">
|
||
</div>
|
||
|
||
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="email-citation-format" class="action-panel-label">
|
||
Format:
|
||
</label>
|
||
<select id="email-citation-format" name="citation-format" class="action-panel-selector email-citation-format">
|
||
<option selected="selected" value="summary">Summary</option>
|
||
<option value="summary-text">Summary (text)</option>
|
||
<option value="abstract">Abstract</option>
|
||
<option value="abstract-text">Abstract (text)</option>
|
||
|
||
</select>
|
||
</div>
|
||
<div class="include-supplemental-container">
|
||
<input type="checkbox" aria-label="Include MeSH and other data" name="include-supplemental" id="email-include-supplemental" class="email-include-supplemental">
|
||
<label for="email-include-supplemental" class="email-include-supplemental-label">MeSH and other data</label>
|
||
</div>
|
||
|
||
|
||
|
||
<div class="form-field recaptcha ">
|
||
|
||
|
||
|
||
<div class="g-recaptcha" id="id-recaptcha" data-sitekey="6LfsWHMdAAAAAClKbtOpjQ2pMjgsGxvv7NdZW9uI"></div>
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
<div id="captcha-error-message" class="usa-input-error-message captcha-validation-message" role="alert"></div>
|
||
|
||
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Sending..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="email"
|
||
data-ga-label="send">
|
||
Send email
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Email citations' panel"
|
||
ref="linksrc=close_email_panel"
|
||
aria-controls="email-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="email"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
<input type="hidden" name="email-search-details" value="" />
|
||
<input type="hidden" name="email-search-details-hash" value="0e42663a6c3bd85498fcb88798998fed7bfdc45d457db35281e41afe13cc0524" />
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="collections-action-panel"
|
||
class="collections-action-panel action-panel in-progress-dots-panel"
|
||
aria-hidden="true"
|
||
data-collections-open-panel-enabled="false"
|
||
data-collections-open-panel-url-hash="#open-collections-panel">
|
||
<div class="inner-wrap">
|
||
<h3 class="action-panel-heading">
|
||
Add to Collections
|
||
</h3>
|
||
|
||
|
||
<form id="collections-action-panel-form"
|
||
class="collections-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
|
||
data-existing-collections-url="/list-existing-collections/"
|
||
data-add-to-existing-collection-url="/add-to-existing-collection/"
|
||
data-create-and-add-to-new-collection-url="/create-and-add-to-new-collection/"
|
||
data-get-article-ids-by-search-url="/get-article-ids-by-search/"
|
||
data-myncbi-max-collection-name-length="100"
|
||
data-add-to-collection-max-amount="1000"
|
||
data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="vmVafCL51Xqna7089s1MaxXREGs7UqCpM9FfSserBydR4y6YMLEOEFtvcKajN1aJ">
|
||
|
||
|
||
|
||
<div class="choice-group" role="radiogroup">
|
||
<ul class="radio-group-items">
|
||
<li>
|
||
<input type="radio"
|
||
id="collections-action-panel-new"
|
||
class="collections-new"
|
||
name="collections"
|
||
value="new"
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="collections_radio_new">
|
||
<label for="collections-action-panel-new">Create a new collection</label>
|
||
</li>
|
||
<li>
|
||
<input type="radio"
|
||
id="collections-action-panel-existing"
|
||
class="collections-existing"
|
||
name="collections"
|
||
value="existing"
|
||
checked="true"
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="collections_radio_existing">
|
||
<label for="collections-action-panel-existing">Add to an existing collection</label>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
|
||
<div class="controls-wrapper">
|
||
<div class="action-panel-control-wrap new-collections-controls">
|
||
<label for="collections-action-panel-add-to-new" class="action-panel-label required-field-asterisk">
|
||
Name your collection:
|
||
</label>
|
||
<input
|
||
type="text"
|
||
name="add-to-new-collection"
|
||
id="collections-action-panel-add-to-new"
|
||
class="collections-action-add-to-new"
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/"
|
||
maxlength="100"
|
||
data-ga-category="save_share"
|
||
data-ga-action="create_collection"
|
||
data-ga-label="non_favorties_collection">
|
||
<div class="collections-new-name-too-long usa-input-error-message selection-validation-message">
|
||
Name must be less than 100 characters
|
||
</div>
|
||
</div>
|
||
<div class="action-panel-control-wrap existing-collections-controls">
|
||
<label for="collections-action-panel-add-to-existing" class="action-panel-label">
|
||
Choose a collection:
|
||
</label>
|
||
<select id="collections-action-panel-add-to-existing"
|
||
class="action-panel-selector collections-action-add-to-existing"
|
||
data-ga-category="save_share"
|
||
data-ga-action="select_collection"
|
||
data-ga-label="($('#collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'">
|
||
</select>
|
||
<div class="collections-retry-load-on-error usa-input-error-message selection-validation-message">
|
||
Unable to load your collection due to an error<br>
|
||
<a href="#">Please try again</a>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Adding..."
|
||
data-pinger-ignore
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="add">
|
||
Add
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Add to Collections' panel"
|
||
ref="linksrc=close_collections_panel"
|
||
aria-controls="collections-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="bibliography-action-panel"
|
||
class="bibliography-action-panel action-panel in-progress-dots-panel"
|
||
aria-hidden="true"
|
||
data-bibliography-open-panel-enabled="false"
|
||
data-bibliography-open-panel-url-hash="#open-bibliography-panel">
|
||
<div class="inner-wrap">
|
||
<h3 class="action-panel-heading">
|
||
Add to My Bibliography
|
||
</h3>
|
||
<form id="bibliography-action-panel-form"
|
||
class="bibliography-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
|
||
data-add-to-bibliography-max-amount="100"
|
||
data-add-to-bibliography-batch-size="10"
|
||
data-bibliography-delegates-url="/list-bibliography-delegates/"
|
||
data-add-to-bibliography-url="/add-to-bibliography/"
|
||
data-get-article-ids-by-search-url="/get-article-ids-by-search/"
|
||
data-mybib-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/mybibliography/">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="vmVafCL51Xqna7089s1MaxXREGs7UqCpM9FfSserBydR4y6YMLEOEFtvcKajN1aJ">
|
||
|
||
|
||
|
||
<div class="action-panel-control-wrap bibliographies-controls">
|
||
<div class="choice-group">
|
||
<ul class="bibliographies-action-add radio-group-items">
|
||
<li>
|
||
<input name="bibliography" id="my-bibliography" class="my-bibliography" type="radio" checked/>
|
||
<label for="my-bibliography">My Bibliography</label>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="bibliographies-retry-load-on-error usa-input-error-message selection-validation-message">
|
||
Unable to load your delegates due to an error<br>
|
||
<a href="#">Please try again</a>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Adding..."
|
||
data-pinger-ignore>
|
||
Add
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Add to bibliography' panel"
|
||
ref="linksrc=close_bibliography_panel"
|
||
aria-controls="bibliography-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="mybib"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div id="saved-search-action-panel" class="saved-search-action-panel action-panel " aria-hidden="true"
|
||
data-saved-search-open-panel-enabled="false"
|
||
data-saved-search-open-panel-url-hash="#open-saved-search-panel">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Your saved search
|
||
</h2>
|
||
|
||
<form id="saved-search-action-panel-form"
|
||
class="saved-search-action-panel-form action-panel-content action-form"
|
||
data-create-saved-search-url="/create-saved-search/"
|
||
data-try-search-terms-url="/try-search-term/"
|
||
data-saved-search-root-url="https://www.ncbi.nlm.nih.gov/myncbi/searches/">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="vmVafCL51Xqna7089s1MaxXREGs7UqCpM9FfSserBydR4y6YMLEOEFtvcKajN1aJ">
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-name" class="action-panel-label saved-search-name-label required-field-asterisk">
|
||
Name of saved search:
|
||
</label>
|
||
<input maxlength="200"
|
||
type="text"
|
||
name="saved-search-name"
|
||
id="saved-search-name"
|
||
class="saved-search-name"
|
||
value=""
|
||
required
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/">
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-term" class="action-panel-label required-field-asterisk">
|
||
Search terms:
|
||
</label>
|
||
<textarea name="saved-search-term" id="saved-search-term" class="saved-search-term" required></textarea>
|
||
</div>
|
||
<div class="test-search-term-wrap">
|
||
<a href="#" class="try-search-term">Test search terms</a>
|
||
</div>
|
||
<div class="choice-group action-panel-extra-margin-top">
|
||
<span class="action-panel-label" id="fieldset-label">
|
||
Would you like email updates of new search results?
|
||
</span>
|
||
<fieldset id="saved-search-alert" aria-describedby="fieldset-label">
|
||
<legend class="usa-sr-only">Saved Search Alert Radio Buttons</legend>
|
||
<ul class="radio-group-items">
|
||
<li>
|
||
<input type="radio" id="saved-search-alert-yes" class="saved-search-alert-yes" name="saved-search-alert" value="yes" checked>
|
||
<label for="saved-search-alert-yes" class="action-panel-label">Yes</label>
|
||
</li>
|
||
<li>
|
||
<input aria-label="No radio input" type="radio" id="saved-search-alert-no" class="saved-search-alert-no" name="saved-search-alert" value="no">
|
||
<label for="saved-search-alert-no" class="action-panel-label">No</label>
|
||
</li>
|
||
</ul>
|
||
</fieldset>
|
||
</div>
|
||
|
||
<div class="alert-schedule-wrap">
|
||
<div class="action-panel-control-wrap">
|
||
<label class="action-panel-label">
|
||
Email:
|
||
</label>
|
||
<span aria-label="Email address" id="saved-search-email" class="action-panel-label"><span class="action-panel-label-bold"></span> (<a class="myncbi-account-settings" href="https://www.ncbi.nlm.nih.gov/account/settings/">change</a>)</span>
|
||
</div>
|
||
<div class="action-panel-control-wrap action-panel-extra-margin-top">
|
||
<label for="saved-search-frequency" class="action-panel-label">
|
||
Frequency:
|
||
</label>
|
||
<select id="saved-search-frequency" class="no-border-panel-selector saved-search-frequency">
|
||
<option value="monthly">Monthly</option>
|
||
<option value="weekly">Weekly</option>
|
||
<option value="daily">Daily</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap saved-search-monthly-additional">
|
||
<label for="saved-search-monthly-on-day" class="action-panel-label">
|
||
Which day?
|
||
</label>
|
||
<select id="saved-search-monthly-on-day" class="no-border-panel-selector">
|
||
<option value="Sunday">The first Sunday</option>
|
||
<option value="Monday">The first Monday</option>
|
||
<option value="Tuesday">The first Tuesday</option>
|
||
<option value="Wednesday">The first Wednesday</option>
|
||
<option value="Thursday">The first Thursday</option>
|
||
<option value="Friday">The first Friday</option>
|
||
<option value="Saturday">The first Saturday</option>
|
||
<option value="day">The first day</option>
|
||
<option value="weekday">The first weekday</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap saved-search-weekly-additional">
|
||
<label for="saved-search-weekly-on-day" class="action-panel-label">
|
||
Which day?
|
||
</label>
|
||
<select id="saved-search-weekly-on-day" class="no-border-panel-selector saved-search-weekly-on-day">
|
||
<option value="Sunday">Sunday</option>
|
||
<option value="Monday">Monday</option>
|
||
<option value="Tuesday">Tuesday</option>
|
||
<option value="Wednesday">Wednesday</option>
|
||
<option value="Thursday">Thursday</option>
|
||
<option value="Friday">Friday</option>
|
||
<option value="Saturday">Saturday</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-report" class="action-panel-label">
|
||
Report format:
|
||
</label>
|
||
<select id="saved-search-report" class="no-border-panel-selector saved-search-report">
|
||
<option value="DocSum">Summary</option>
|
||
<option value="DocSumText">Summary (text)</option>
|
||
<option value="Abstract">Abstract</option>
|
||
<option value="AbstractText">Abstract (text)</option>
|
||
<option value="MEDLINE">PubMed</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-amount" class="action-panel-label">
|
||
Send at most:
|
||
</label>
|
||
<select id="saved-search-amount" class="no-border-panel-selector saved-search-amount">
|
||
<option value="1">1 item</option>
|
||
<option value="5" selected>5 items</option>
|
||
<option value="10">10 items</option>
|
||
<option value="20">20 items</option>
|
||
<option value="50">50 items</option>
|
||
<option value="100">100 items</option>
|
||
<option value="200">200 items</option>
|
||
</select>
|
||
</div>
|
||
<div>
|
||
<input type="checkbox" id="saved-search-send-if-no-result" class="saved-search-send-if-no-result" name="saved-search-send-if-no-result">
|
||
<label for="saved-search-send-if-no-result" class="action-panel-label smaller-checkbox">
|
||
Send even when there aren't any new results
|
||
</label>
|
||
</div>
|
||
<div class="action-panel-control-wrap option-text-in-email-wrap">
|
||
<label for="saved-search-email-text" class="action-panel-label">
|
||
Optional text in email:
|
||
</label>
|
||
<textarea name="saved-search-email-text"
|
||
id="saved-search-email-text"
|
||
class="saved-search-email-text"></textarea>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Saving..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="save">
|
||
Save
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Your saved search' panel"
|
||
ref="linksrc=close_saved_search_panel"
|
||
aria-controls="saved-search-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="citation-manager-action-panel" class="citation-manager-action-panel action-panel" aria-hidden="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Create a file for external citation management software
|
||
</h2>
|
||
<form id="citation-manager-action-panel-form"
|
||
class="action-panel-content action-form"
|
||
action="/results-export-ids/"
|
||
data-by-search-action="/results-export-search-data/"
|
||
data-by-ids-action="/results-export-ids/"
|
||
method="post"
|
||
data-by-search-method="post"
|
||
data-by-ids-method="post">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="vmVafCL51Xqna7089s1MaxXREGs7UqCpM9FfSserBydR4y6YMLEOEFtvcKajN1aJ">
|
||
|
||
|
||
|
||
<input name="results-format" type="hidden" value="pubmed"/>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Sending..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="citation_manager"
|
||
data-ga-label="save">
|
||
Create file
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Send citations to citation manager' panel"
|
||
ref="linksrc=close_citation_manager_panel"
|
||
aria-controls="citation-manager-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="citation_manager"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div id="rss-action-panel" class="rss-action-panel action-panel " aria-hidden="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Your RSS Feed
|
||
</h2>
|
||
|
||
<form id="rss-action-panel-form"
|
||
class="rss-action-panel-form action-panel-content action-form"
|
||
data-create-rss-feed-url="/create-rss-feed-url/"
|
||
data-search-form-term-value="">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="vmVafCL51Xqna7089s1MaxXREGs7UqCpM9FfSserBydR4y6YMLEOEFtvcKajN1aJ">
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="rss-name" class="action-panel-label required-field-asterisk">
|
||
Name of RSS Feed:
|
||
</label>
|
||
<input maxlength="200"
|
||
placeholder="Name"
|
||
type="text"
|
||
name="rss-name"
|
||
id="rss-name"
|
||
class="rss-name"
|
||
value=''
|
||
required
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/">
|
||
</div>
|
||
|
||
<div class="rss-limit-wrap">
|
||
<div class="action-panel-control-wrap action-panel-extra-margin-top">
|
||
<label for="rss-limit" class="action-panel-label">
|
||
Number of items displayed:
|
||
</label>
|
||
<select id="rss-limit" class="no-border-panel-selector rss-limit">
|
||
<option value="5">5</option>
|
||
<option value="10">10</option>
|
||
<option value="15" selected="selected">15</option>
|
||
<option value="20">20</option>
|
||
<option value="50">50</option>
|
||
<option value="100">100</option>
|
||
</select>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Creating..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="save">
|
||
Create RSS
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Your RSS' panel"
|
||
ref="linksrc=close_rss_panel"
|
||
aria-controls="rss-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap rss-link-copy-wrap">
|
||
<label for="rss-link" class="usa-sr-only">RSS Link</label>
|
||
<input placeholder="Your RSS Feed Link" type="text" name="rss-link" id="rss-link" class="rss-link" title="RSS Link">
|
||
<button
|
||
type="button"
|
||
disabled
|
||
class="rss-link-copy-button disabled"
|
||
data-ga-category="save_share"
|
||
data-ga-action="rss"
|
||
data-ga-label="copy">
|
||
Copy
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="article-page" id="article-page" data-article-pmid="28448108">
|
||
<aside class="page-sidebar">
|
||
<div class="inner-wrap">
|
||
|
||
<div class="full-text-links">
|
||
<div class="full-view">
|
||
<h3 class="title">
|
||
Full text links
|
||
</h3>
|
||
<div class="full-text-links-list">
|
||
<a class="link-item
|
||
book
|
||
dialog-focus"
|
||
href="https://www.ncbi.nlm.nih.gov/books/NBK426063"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=False&PrId=3057&itool=Abstract-def&log$=linkouticon&uid=28448108&db=pubmed"
|
||
title="See full text options at NCBI Bookshelf"
|
||
|
||
data-ga-category="full_text"
|
||
data-ga-action="NCBI Bookshelf"
|
||
data-ga-label="28448108"
|
||
><img class="book-icon" src="https://cdn.ncbi.nlm.nih.gov/corehtml/pmc/pmcgifs/bookshelf/thumbs/th-gene.png" alt="book cover photo"><div class="book-icon-label"><div class="book-icon-label-title">GeneReviews<sup>®</sup> [Internet]</div></div><span class="text">
|
||
|
||
NCBI Bookshelf
|
||
|
||
</span></a>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
<div class="short-view">
|
||
<a href="#" class="full-text-links-button full-text-links-dialog-trigger">
|
||
Full text links
|
||
</a>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div class="actions-buttons sidebar"><h3 class="title">Actions</h3><div class="inner-wrap"><button class="citation-button citation-dialog-trigger"
|
||
aria-label="Open dialog with citation text in different styles"
|
||
data-ga-category="save_share"
|
||
data-ga-action="cite"
|
||
data-ga-label="open"
|
||
data-all-citations-url="/28448108/citations/"
|
||
data-citation-style="nlm"
|
||
data-pubmed-format-link="/28448108/export/"><span class="button-label">Cite</span></button><link type="text/css" href="ncbi-overlay-block/src/overlay-block.css"><div class="collections-button-container" data-article-id="28448108" data-article-db="pubmed"><button class="collections-button collections-dialog-trigger"
|
||
aria-label="Save article in MyNCBI collections."
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_button"
|
||
data-collections-open-dialog-enabled="false"
|
||
data-collections-open-dialog-url="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F28448108%2F%23open-collections-dialog"
|
||
data-in-collections="false"><span class="button-label">Collections</span></button><div class="overlay" role="dialog"><div id="collections-action-dialog"
|
||
class="dialog collections-dialog"
|
||
aria-hidden="true"><div class="title">Add to Collections</div><div class="collections-action-panel action-panel"><form id="collections-action-dialog-form"
|
||
class="collections-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
|
||
data-existing-collections-url="/list-existing-collections/"
|
||
data-add-to-existing-collection-url="/add-to-existing-collection/"
|
||
data-create-and-add-to-new-collection-url="/create-and-add-to-new-collection/"
|
||
data-myncbi-max-collection-name-length="100"
|
||
data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/"><input type="hidden" name="csrfmiddlewaretoken" value="vmVafCL51Xqna7089s1MaxXREGs7UqCpM9FfSserBydR4y6YMLEOEFtvcKajN1aJ"><div class="choice-group" role="radiogroup"><ul class="radio-group-items"><li><input type="radio"
|
||
id="collections-action-dialog-new"
|
||
class="collections-new"
|
||
name="collections"
|
||
value="new"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_radio_new"><label for="collections-action-dialog-new">Create a new collection</label></li><li><input type="radio"
|
||
id="collections-action-dialog-existing"
|
||
class="collections-existing"
|
||
name="collections"
|
||
value="existing"
|
||
checked="true"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_radio_existing"><label for="collections-action-dialog-existing">Add to an existing collection</label></li></ul></div><div class="controls-wrapper"><div class="action-panel-control-wrap new-collections-controls"><label for="collections-action-dialog-add-to-new" class="action-panel-label required-field-asterisk">
|
||
Name your collection:
|
||
</label><input
|
||
type="text"
|
||
name="add-to-new-collection"
|
||
id="collections-action-dialog-add-to-new"
|
||
class="collections-action-add-to-new"
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/"
|
||
maxlength="100"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="create_collection"
|
||
data-ga-label="non_favorties_collection"><div class="collections-new-name-too-long usa-input-error-message selection-validation-message">
|
||
Name must be less than 100 characters
|
||
</div></div><div class="action-panel-control-wrap existing-collections-controls"><label for="collections-action-dialog-add-to-existing" class="action-panel-label">
|
||
Choose a collection:
|
||
</label><select id="collections-action-dialog-add-to-existing"
|
||
class="action-panel-selector collections-action-add-to-existing"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="select_collection"
|
||
data-ga-label="($('.collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'"></select><div class="collections-retry-load-on-error usa-input-error-message selection-validation-message">
|
||
Unable to load your collection due to an error<br><a href="#">Please try again</a></div></div></div><div class="action-panel-actions"><button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Adding..."
|
||
data-pinger-ignore
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="add">
|
||
Add
|
||
</button><button class="action-panel-cancel"
|
||
aria-label="Close 'Add to Collections' panel"
|
||
ref="linksrc=close_collections_panel"
|
||
aria-controls="collections-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button></div></form></div></div></div></div><button class="more-actions-button more-actions-dialog-trigger"
|
||
title="Open dialog with more actions to take"
|
||
ref="linksrc=more_actions_btn"></button><div class="display-options" data-format-key="format"
|
||
data-default-format-value="abstract"
|
||
data-current-format-value="abstract" role="region"><button
|
||
class="trigger usa-button"
|
||
title="Change format"
|
||
data-ga-category="display_options"
|
||
data-ga-action="display_options_dialog"><span class="button-label">Display options</span></button><div class="dropdown" hidden><div class="title">
|
||
Display options
|
||
</div><div class="content"><div class="format-container"><span class="option-label">
|
||
Format
|
||
</span><select name="format" data-initial-value="abstract" aria-label="Display format" id="sidebar-actions-display-format"><option value="abstract">Abstract</option><option value="pubmed">PubMed</option><option value="pmid">PMID</option></select></div></div></div></div></div></div>
|
||
|
||
<div class="social-sharing">
|
||
<h3 class="title">
|
||
Share
|
||
</h3>
|
||
<ul class="social-sharing-links usa-unstyled-list">
|
||
|
||
|
||
<li>
|
||
<a href="http://twitter.com/intent/tweet?text=PURA-Related%20Neurodevelopmental%20Disorders%20https%3A//pubmed.ncbi.nlm.nih.gov/28448108/"
|
||
class="share-link share-link-twitter"
|
||
rel="noreferrer noopener"
|
||
target="Pubmed-Social-Media-Share-Popup"
|
||
title="Share article on Twitter"
|
||
data-ga-category="save_share"
|
||
data-ga-action="social"
|
||
data-ga-label="twitter"></a>
|
||
</li>
|
||
<li>
|
||
<a href="http://www.facebook.com/sharer/sharer.php?u=https%3A//pubmed.ncbi.nlm.nih.gov/28448108/"
|
||
class="share-link share-link-facebook"
|
||
rel="noreferrer noopener"
|
||
target="Pubmed-Social-Media-Share-Popup"
|
||
title="Share article on Facebook"
|
||
data-ga-category="save_share"
|
||
data-ga-action="social"
|
||
data-ga-label="fb"></a>
|
||
</li>
|
||
|
||
<li>
|
||
<div class="share-permalink">
|
||
<button class="trigger"
|
||
title="Show article permalink"
|
||
ref="linksrc=show_permalink_btn">
|
||
</button>
|
||
<div class="dropdown" hidden>
|
||
<div class="title">
|
||
Permalink
|
||
</div>
|
||
<div class="content">
|
||
|
||
|
||
<input type="text"
|
||
class="permalink-text"
|
||
value="https://pubmed.ncbi.nlm.nih.gov/28448108/"
|
||
aria-label="Article permalink"/><button class="permalink-copy-button usa-button-primary"
|
||
title="Copy article permalink"
|
||
data-ga-category="save_share"
|
||
data-ga-action="link"
|
||
data-ga-label="copy_link"><span class="button-title">Copy</span></button>
|
||
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
|
||
<nav class="page-navigator" role="navigation" aria-label="Page navigation">
|
||
<div class="full-view">
|
||
<h3 class="title">
|
||
Page navigation
|
||
</h3>
|
||
<ul class="items-list">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="heading ">
|
||
<a href="#heading"
|
||
aria-label="navigate to Title & authors section"
|
||
data-ga-category="page_nav"
|
||
data-ga-action="heading">
|
||
Title & authors
|
||
</a>
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="abstract ">
|
||
<a href="#abstract"
|
||
aria-label="navigate to Excerpt section"
|
||
data-ga-category="page_nav"
|
||
data-ga-action="abstract">
|
||
Excerpt
|
||
</a>
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="book-sections ">
|
||
<a href="#book-sections"
|
||
aria-label="navigate to Sections section"
|
||
data-ga-category="page_nav"
|
||
data-ga-action="book-sections">
|
||
Sections
|
||
</a>
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="similar ">
|
||
<a href="#similar"
|
||
aria-label="navigate to Similar articles section"
|
||
data-ga-category="page_nav"
|
||
data-ga-action="similar">
|
||
Similar articles
|
||
</a>
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="references ">
|
||
<a href="#references"
|
||
aria-label="navigate to References section"
|
||
data-ga-category="page_nav"
|
||
data-ga-action="references">
|
||
References
|
||
</a>
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="publication-types ">
|
||
<a href="#publication-types"
|
||
aria-label="navigate to Publication types section"
|
||
data-ga-category="page_nav"
|
||
data-ga-action="publication-types">
|
||
Publication types
|
||
</a>
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="related-links ">
|
||
<a href="#related-links"
|
||
aria-label="navigate to Related information section"
|
||
data-ga-category="page_nav"
|
||
data-ga-action="related-links">
|
||
Related information
|
||
</a>
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="linkout ">
|
||
<a href="#linkout"
|
||
aria-label="navigate to LinkOut - more resources section"
|
||
data-ga-category="page_nav"
|
||
data-ga-action="linkout">
|
||
LinkOut - more resources
|
||
</a>
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
</ul>
|
||
</div>
|
||
<select class="short-view" autocomplete="off" title="navigate to selected section" aria-label="Navigate to page section">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<option value="heading">Title & authors</option>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<option value="abstract">Excerpt</option>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<option value="book-sections">Sections</option>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<option value="similar">Similar articles</option>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<option value="references">References</option>
|
||
|
||
|
||
|
||
|
||
|
||
<option value="publication-types">Publication types</option>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<option value="related-links">Related information</option>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<option value="linkout">LinkOut - more resources</option>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
</select>
|
||
</nav>
|
||
|
||
</div>
|
||
</aside>
|
||
|
||
<main class="article-details" id="article-details">
|
||
|
||
|
||
<!-- "Filters applied" shows only when page is redirected from search -->
|
||
<!-- because search found one result -->
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<header class="heading" id="heading">
|
||
|
||
|
||
<div class="full-view" id="full-view-heading">
|
||
|
||
|
||
<div class="publication-type" >Review</div>
|
||
|
||
|
||
|
||
|
||
<h1 class="heading-title">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<i>PURA</i>-Related Neurodevelopmental Disorders
|
||
|
||
|
||
|
||
|
||
</h1>
|
||
|
||
|
||
|
||
<div class="inline-authors">
|
||
|
||
|
||
|
||
|
||
|
||
<div class="authors">
|
||
|
||
|
||
|
||
<div class="authors-list">
|
||
<span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Reijnders+MRF&cauthor_id=28448108"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Margot RF Reijnders">Margot RF Reijnders</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Human Genetics, Radboud Unversity Medical Center, Nijmegen, The Netherlands" href="#full-view-affiliation-1" ref="linksrc=author_aff">
|
||
1
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Leventer+RJ&cauthor_id=28448108"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Richard J Leventer">Richard J Leventer</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Neurology, Murdoch Children's Research Institute, Department of Paediatrics, University of Melbourne, The Royal Children's Hospital Melbourne, Victoria, Australia" href="#full-view-affiliation-2" ref="linksrc=author_aff">
|
||
2
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Lee+BH&cauthor_id=28448108"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Bo Hoon Lee">Bo Hoon Lee</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Child Neurology, University of Rochester Medical Center, Rochester, New York" href="#full-view-affiliation-3" ref="linksrc=author_aff">
|
||
3
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Baralle+D&cauthor_id=28448108"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Diana Baralle">Diana Baralle</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom" href="#full-view-affiliation-4" ref="linksrc=author_aff">
|
||
4
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, United Kingdom" href="#full-view-affiliation-5" ref="linksrc=author_aff">
|
||
5
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Selber+P&cauthor_id=28448108"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Paulo Selber">Paulo Selber</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Orthopaedics, Royal Children's Hospital Melbourne, Victoria, Australia" href="#full-view-affiliation-6" ref="linksrc=author_aff">
|
||
6
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Paciorkowski+AR&cauthor_id=28448108"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Alex R Paciorkowski">Alex R Paciorkowski</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Child Neurology, University of Rochester Medical Center, Rochester, New York" href="#full-view-affiliation-3" ref="linksrc=author_aff">
|
||
3
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Hunt+D&cauthor_id=28448108"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="David Hunt">David Hunt</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom" href="#full-view-affiliation-4" ref="linksrc=author_aff">
|
||
4
|
||
</a></sup></span>
|
||
</div>
|
||
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<div class="editors">
|
||
|
||
|
||
|
||
<div class="authors-list">
|
||
<span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Adam+MP%5BEditor%5D"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Margaret P Adam">Margaret P Adam</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Feldman+J%5BEditor%5D"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Jerry Feldman">Jerry Feldman</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Mirzaa+GM%5BEditor%5D"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Ghayda M Mirzaa">Ghayda M Mirzaa</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Pagon+RA%5BEditor%5D"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Roberta A Pagon">Roberta A Pagon</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Wallace+SE%5BEditor%5D"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Stephanie E Wallace">Stephanie E Wallace</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Amemiya+A%5BEditor%5D"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Anne Amemiya">Anne Amemiya</a></span>
|
||
</div>
|
||
|
||
<span class="ending">, editors.</span>
|
||
</div>
|
||
|
||
|
||
</div>
|
||
|
||
<div class="book-citation">
|
||
<div class="citation">In: GeneReviews<sup>®</sup> [Internet]. Seattle (WA): University of Washington, Seattle; 1993.</div>
|
||
|
||
|
||
<div class="chapter-date"><span class="chapter-contribution-date" ><time class="chapter-contribution-date-value" datetime="2017-04-27"
|
||
>2017 Apr 27</time></span><span class="chapter-date-punctuation">.</span></div>
|
||
|
||
</div>
|
||
|
||
|
||
<div class="short-article-details">
|
||
|
||
|
||
|
||
Affiliations
|
||
|
||
|
||
|
||
<button
|
||
class="more-details"
|
||
id="toggle-authors"
|
||
data-alt-text="Collapse"
|
||
aria-controls="expanded-authors"
|
||
aria-expanded="false"
|
||
data-pinger-ignore
|
||
data-fetch-url="/28448108/long-authors/"
|
||
data-id-prefix="">
|
||
<span class="title">
|
||
Expand
|
||
</span>
|
||
</button>
|
||
|
||
</div>
|
||
|
||
|
||
<div class="extended-article-details" id="expanded-authors" aria-hidden="true">
|
||
|
||
|
||
|
||
|
||
<div class="expanded-authors" id="full-view-expanded-authors">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<div class="affiliations">
|
||
<h3 class="title">
|
||
Affiliations
|
||
</h3>
|
||
<ul class="item-list">
|
||
|
||
<li data-affiliation-id="full-view-affiliation-1"
|
||
id="full-view-affiliation-1"
|
||
><sup class="key">1</sup> Department of Human Genetics, Radboud Unversity Medical Center, Nijmegen, The Netherlands</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-2"
|
||
id="full-view-affiliation-2"
|
||
><sup class="key">2</sup> Department of Neurology, Murdoch Children's Research Institute, Department of Paediatrics, University of Melbourne, The Royal Children's Hospital Melbourne, Victoria, Australia</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-3"
|
||
id="full-view-affiliation-3"
|
||
><sup class="key">3</sup> Child Neurology, University of Rochester Medical Center, Rochester, New York</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-4"
|
||
id="full-view-affiliation-4"
|
||
><sup class="key">4</sup> Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-5"
|
||
id="full-view-affiliation-5"
|
||
><sup class="key">5</sup> Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, United Kingdom</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-6"
|
||
id="full-view-affiliation-6"
|
||
><sup class="key">6</sup> Department of Orthopaedics, Royal Children's Hospital Melbourne, Victoria, Australia</li>
|
||
|
||
</ul>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
|
||
|
||
</div>
|
||
|
||
|
||
|
||
<ul class="identifiers" id="full-view-identifiers">
|
||
|
||
<li>
|
||
<span class="identifier pubmed">
|
||
<span class="id-label">
|
||
|
||
PMID:
|
||
|
||
</span>
|
||
|
||
|
||
<strong class="current-id" title="PubMed ID">28448108</strong>
|
||
|
||
|
||
|
||
</span>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<span class="identifier bookshelf">
|
||
<span class="id-label">
|
||
|
||
Bookshelf ID:
|
||
|
||
</span>
|
||
|
||
|
||
<a class="id-link"
|
||
target="_blank"
|
||
rel="noopener"
|
||
ref="linksrc=article_id_link&article_id=NBK426063&id_type=Bookshelf"
|
||
href="https://www.ncbi.nlm.nih.gov/books/NBK426063/"
|
||
data-ga-category="full_text"
|
||
data-ga-action=""
|
||
>
|
||
NBK426063
|
||
</a>
|
||
|
||
|
||
|
||
</span>
|
||
|
||
</li>
|
||
|
||
</ul>
|
||
|
||
|
||
|
||
|
||
<span class="free-label">Free Books & Documents</span>
|
||
|
||
<div class="in-clipboard-label " hidden>
|
||
Item in Clipboard
|
||
</div>
|
||
</div>
|
||
<div class="short-view" id="short-view-heading">
|
||
|
||
<div class="publication-type" >Review</div>
|
||
|
||
|
||
|
||
|
||
<h1 class="heading-title">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<i>PURA</i>-Related Neurodevelopmental Disorders
|
||
|
||
|
||
|
||
|
||
</h1>
|
||
|
||
|
||
|
||
<div class="short-citation">
|
||
<span class="authors-list">
|
||
|
||
|
||
<span class="authors-list-item "><span class="full-name">Margot RF Reijnders</span><span class="citation-separator"> et al.</span></span>
|
||
|
||
|
||
</span>
|
||
|
||
</div>
|
||
|
||
|
||
<span class="free-label">Free Books & Documents</span>
|
||
|
||
<div class="more-article-details-section with-display-settings">
|
||
<button class="more-article-details"
|
||
id="toggle-article-details"
|
||
data-alt-text="Hide details"
|
||
ref="linksrc=toggle_article_details"
|
||
aria-controls="full-article-details"
|
||
aria-expanded="false"
|
||
data-fetch-url="/28448108/long-authors/"
|
||
data-id-prefix="">
|
||
<span class="title">Show details</span>
|
||
</button>
|
||
|
||
|
||
|
||
<div class="display-options" data-format-key="format"
|
||
data-default-format-value="abstract"
|
||
data-current-format-value="abstract" role="region">
|
||
<button
|
||
class="trigger usa-button"
|
||
title="Change format"
|
||
data-ga-category="display_options"
|
||
data-ga-action="display_options_dialog">
|
||
<span class="button-label">Display options</span>
|
||
</button>
|
||
|
||
<div class="dropdown" hidden>
|
||
<div class="title">
|
||
Display options
|
||
</div>
|
||
|
||
<div class="content">
|
||
|
||
<div class="format-container">
|
||
<span class="option-label">
|
||
Format
|
||
</span>
|
||
<select name="format" data-initial-value="abstract" aria-label="Display format" id="mobile-display-format">
|
||
<option value="abstract">Abstract</option>
|
||
|
||
<option value="pubmed">PubMed</option>
|
||
|
||
<option value="pmid">PMID</option>
|
||
|
||
</select>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
<div class="extended-article-details" id="full-article-details" aria-hidden="true">
|
||
|
||
<div class="book-citation">
|
||
<div class="citation">In: GeneReviews<sup>®</sup> [Internet]. Seattle (WA): University of Washington, Seattle; 1993.</div>
|
||
|
||
|
||
<div class="chapter-date"><span class="chapter-contribution-date" ><time class="chapter-contribution-date-value" datetime="2017-04-27"
|
||
>2017 Apr 27</time></span><span class="chapter-date-punctuation">.</span></div>
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<div class="expanded-authors" id="short-view-expanded-authors">
|
||
|
||
<div class="authors">
|
||
<h3 class="title">
|
||
Authors
|
||
</h3>
|
||
|
||
|
||
|
||
<div class="authors-list">
|
||
<span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Reijnders+MRF&cauthor_id=28448108"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Margot RF Reijnders">Margot RF Reijnders</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Human Genetics, Radboud Unversity Medical Center, Nijmegen, The Netherlands" href="#short-view-affiliation-1" ref="linksrc=author_aff">
|
||
1
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Leventer+RJ&cauthor_id=28448108"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Richard J Leventer">Richard J Leventer</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Neurology, Murdoch Children's Research Institute, Department of Paediatrics, University of Melbourne, The Royal Children's Hospital Melbourne, Victoria, Australia" href="#short-view-affiliation-2" ref="linksrc=author_aff">
|
||
2
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Lee+BH&cauthor_id=28448108"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Bo Hoon Lee">Bo Hoon Lee</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Child Neurology, University of Rochester Medical Center, Rochester, New York" href="#short-view-affiliation-3" ref="linksrc=author_aff">
|
||
3
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Baralle+D&cauthor_id=28448108"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Diana Baralle">Diana Baralle</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom" href="#short-view-affiliation-4" ref="linksrc=author_aff">
|
||
4
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, United Kingdom" href="#short-view-affiliation-5" ref="linksrc=author_aff">
|
||
5
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Selber+P&cauthor_id=28448108"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Paulo Selber">Paulo Selber</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Orthopaedics, Royal Children's Hospital Melbourne, Victoria, Australia" href="#short-view-affiliation-6" ref="linksrc=author_aff">
|
||
6
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Paciorkowski+AR&cauthor_id=28448108"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Alex R Paciorkowski">Alex R Paciorkowski</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Child Neurology, University of Rochester Medical Center, Rochester, New York" href="#short-view-affiliation-3" ref="linksrc=author_aff">
|
||
3
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Hunt+D&cauthor_id=28448108"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="David Hunt">David Hunt</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom" href="#short-view-affiliation-4" ref="linksrc=author_aff">
|
||
4
|
||
</a></sup></span>
|
||
</div>
|
||
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<div class="editors">
|
||
<h3 class="title">
|
||
Book Editors
|
||
</h3>
|
||
|
||
|
||
|
||
<div class="authors-list">
|
||
<span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Adam+MP%5BEditor%5D"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Margaret P Adam">Margaret P Adam</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Feldman+J%5BEditor%5D"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Jerry Feldman">Jerry Feldman</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Mirzaa+GM%5BEditor%5D"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Ghayda M Mirzaa">Ghayda M Mirzaa</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Pagon+RA%5BEditor%5D"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Roberta A Pagon">Roberta A Pagon</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Wallace+SE%5BEditor%5D"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Stephanie E Wallace">Stephanie E Wallace</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Amemiya+A%5BEditor%5D"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Anne Amemiya">Anne Amemiya</a></span>
|
||
</div>
|
||
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
<div class="affiliations">
|
||
<h3 class="title">
|
||
Affiliations
|
||
</h3>
|
||
<ul class="item-list">
|
||
|
||
<li data-affiliation-id="short-view-affiliation-1"
|
||
id="short-view-affiliation-1"
|
||
><sup class="key">1</sup> Department of Human Genetics, Radboud Unversity Medical Center, Nijmegen, The Netherlands</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-2"
|
||
id="short-view-affiliation-2"
|
||
><sup class="key">2</sup> Department of Neurology, Murdoch Children's Research Institute, Department of Paediatrics, University of Melbourne, The Royal Children's Hospital Melbourne, Victoria, Australia</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-3"
|
||
id="short-view-affiliation-3"
|
||
><sup class="key">3</sup> Child Neurology, University of Rochester Medical Center, Rochester, New York</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-4"
|
||
id="short-view-affiliation-4"
|
||
><sup class="key">4</sup> Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-5"
|
||
id="short-view-affiliation-5"
|
||
><sup class="key">5</sup> Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, United Kingdom</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-6"
|
||
id="short-view-affiliation-6"
|
||
><sup class="key">6</sup> Department of Orthopaedics, Royal Children's Hospital Melbourne, Victoria, Australia</li>
|
||
|
||
</ul>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<ul class="identifiers" id="short-view-identifiers">
|
||
|
||
<li>
|
||
<span class="identifier pubmed">
|
||
<span class="id-label">
|
||
|
||
PMID:
|
||
|
||
</span>
|
||
|
||
|
||
<strong class="current-id" title="PubMed ID">28448108</strong>
|
||
|
||
|
||
|
||
</span>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<span class="identifier bookshelf">
|
||
<span class="id-label">
|
||
|
||
Bookshelf ID:
|
||
|
||
</span>
|
||
|
||
|
||
<a class="id-link"
|
||
target="_blank"
|
||
rel="noopener"
|
||
ref="linksrc=article_id_link&article_id=NBK426063&id_type=Bookshelf"
|
||
href="https://www.ncbi.nlm.nih.gov/books/NBK426063/"
|
||
data-ga-category="full_text"
|
||
data-ga-action=""
|
||
>
|
||
NBK426063
|
||
</a>
|
||
|
||
|
||
|
||
</span>
|
||
|
||
</li>
|
||
|
||
</ul>
|
||
|
||
|
||
|
||
<div class="in-clipboard-label " hidden>
|
||
Item in Clipboard
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
</header>
|
||
|
||
|
||
|
||
<div class="actions-buttons inline"><div class="inner-wrap"><button class="full-text-links-button full-text-links-dialog-trigger"
|
||
title="Open dialog with full text links"
|
||
ref="linksrc=full_text_links">
|
||
Full text links
|
||
</button><button class="citation-button citation-dialog-trigger"
|
||
aria-label="Open dialog with citation text in different styles"
|
||
data-ga-category="save_share"
|
||
data-ga-action="cite"
|
||
data-ga-label="open"
|
||
data-all-citations-url="/28448108/citations/"
|
||
data-citation-style="nlm"
|
||
data-pubmed-format-link="/28448108/export/"><span class="button-label">Cite</span></button><button class="more-actions-button more-actions-dialog-trigger"
|
||
title="Open dialog with more actions to take"
|
||
ref="linksrc=more_actions_btn"></button><div class="display-options" data-format-key="format"
|
||
data-default-format-value="abstract"
|
||
data-current-format-value="abstract" role="region"><button
|
||
class="trigger usa-button"
|
||
title="Change format"
|
||
data-ga-category="display_options"
|
||
data-ga-action="display_options_dialog"><span class="button-label">Display options</span></button><div class="dropdown" hidden><div class="title">
|
||
Display options
|
||
</div><div class="content"><div class="format-container"><span class="option-label">
|
||
Format
|
||
</span><select name="format" data-initial-value="abstract" aria-label="Display format" id="inline-actions-display-format"><option value="abstract">Abstract</option><option value="pubmed">PubMed</option><option value="pmid">PMID</option></select></div></div></div></div></div></div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<div class="abstract" id="abstract">
|
||
|
||
<h2 class="title">
|
||
Excerpt
|
||
|
||
</h2>
|
||
|
||
|
||
|
||
<div class="abstract-content selected"
|
||
id="eng-abstract">
|
||
|
||
|
||
|
||
|
||
|
||
<p>
|
||
|
||
<strong class="sub-title">
|
||
Clinical characteristics:
|
||
</strong>
|
||
|
||
<i>PURA</i>-related neurodevelopmental disorders include <i>PURA</i> syndrome, caused by a heterozygous pathogenic sequence variant in <i>PURA</i>, and 5q31.3 deletion syndrome, caused by a genomic 5q31.3 deletion encompassing all or part of <i>PURA.</i> <i>PURA</i>-related neurodevelopmental disorders are characterized by moderate-to-severe neurodevelopmental delay with absence of speech in most and lack of independent ambulation in many. Early-onset issues can include hypotonia, hypothermia, hypersomnolence, feeding difficulties, excessive hiccups, recurrent central and obstructive apneas, epileptic seizures, abnormal nonepileptic movements (dystonia, dyskinesia, and dysconjugate eye movements), and abnormal vision. Congenital heart defects, urogenital malformations, skeletal abnormalities, and endocrine disorders occur, but are less common.
|
||
</p>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<p>
|
||
|
||
<strong class="sub-title">
|
||
Diagnosis/testing:
|
||
</strong>
|
||
|
||
The diagnosis of a <i>PURA</i>-related neurodevelopmental disorder is established in a proband with either a heterozygous <i>PURA</i> pathogenic sequence variant (90% of affected individuals) or a nonrecurrent deletion of 5q31.3 that encompasses all or part of <i>PURA</i> (10%).
|
||
</p>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<p>
|
||
|
||
<strong class="sub-title">
|
||
Management:
|
||
</strong>
|
||
|
||
<i>Treatment of manifestations:</i> Ongoing routine care by a multidisciplinary team. Treatment and/or therapy for developmental delays; neurologic findings (hypotonia, seizures, abnormal movements); feeding difficulties; apnea; visual impairment; and malformations of the heart, urogenital tract, and skeleton.
|
||
</p>
|
||
|
||
<p>
|
||
|
||
<i>Surveillance</i>: Long-term follow up to assess psychomotor development, seizures or suspected seizures, vision, feeding for dysphagia, and musculoskeletal complications (hip dysplasia and scoliosis).
|
||
</p>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<p>
|
||
|
||
<strong class="sub-title">
|
||
Genetic counseling:
|
||
</strong>
|
||
|
||
<i>PURA</i>-related neurodevelopmental disorders, caused by either a heterozygous <i>PURA</i> pathogenic sequence variant or a 5q31.3 deletion encompassing all or part of <i>PURA</i>, are inherited in an autosomal dominant manner. In almost all probands with a <i>PURA</i> pathogenic sequence variant the sequence variant is <i>de novo</i>; to date, all reported 5q31.3 deletions have been <i>de novo</i>. For parents of an affected child, the risk to future pregnancies is presumed to be low, as a <i>de novo</i> genetic alteration involving <i>PURA</i> is most likely in the proband. However, parents of an affected child may wish to consider prenatal testing or preimplantation genetic testing, as risk may be greater than in the general population owing to the possibility of parental germline mosaicism (estimated empirically at <1%).
|
||
</p>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<p class="copyright" id="copyright">
|
||
Copyright © 1993-2025, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.
|
||
</p>
|
||
|
||
|
||
<p class="disclaimer" id="disclaimer">
|
||
<a href="/disclaimer/" target="_blank" data-ga-category="literature_resources"
|
||
data-ga-action="disclaimer_link" data-ga-label="under_abstract">PubMed Disclaimer</a>
|
||
</p>
|
||
|
||
|
||
|
||
<div class="book-sections" id="book-sections">
|
||
<h2 class="title">
|
||
Sections
|
||
</h2>
|
||
|
||
<ul>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/NBK426063/#pura-dis.Summary" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Summary
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/NBK426063/#pura-dis.GeneReview_Scope" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
<italic>GeneReview</italic> Scope
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/NBK426063/#pura-dis.Diagnosis" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Diagnosis
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/NBK426063/#pura-dis.Clinical_Characteristics" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Clinical Characteristics
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/NBK426063/#pura-dis.Genetically_Related_Allelic_Dis" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Genetically Related (Allelic) Disorders
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/NBK426063/#pura-dis.Differential_Diagnosis" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Differential Diagnosis
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/NBK426063/#pura-dis.Management" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Management
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/NBK426063/#pura-dis.Genetic_Counseling" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Genetic Counseling
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/NBK426063/#pura-dis.Resources" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Resources
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/NBK426063/#pura-dis.Molecular_Genetics" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Molecular Genetics
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/NBK426063/#pura-dis.Chapter_Notes" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
Chapter Notes
|
||
</a>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/NBK426063/#pura-dis.References" target="_blank" rel="noopener" ref="linksrc=book_abstract_section_link">
|
||
References
|
||
</a>
|
||
|
||
</li>
|
||
|
||
</ul>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<div class="similar-articles" id="similar">
|
||
<h2 class="title">
|
||
Similar articles
|
||
</h2>
|
||
|
||
<ul class="articles-list" id="similar-articles-list">
|
||
|
||
|
||
|
||
|
||
|
||
<li class="full-docsum">
|
||
|
||
<div class="docsum-content" style="display:inline;">
|
||
<a class="docsum-title"
|
||
href="/20301377/"
|
||
ref="article_id=20301377&linksrc=similar_articles_link&ordinalpos=1"
|
||
data-ga-category="similar_article"
|
||
data-ga-action="20301377"
|
||
data-ga-label="">
|
||
|
||
Phelan-McDermid Syndrome-<em>SHANK3</em> Related.
|
||
|
||
</a>
|
||
<div class="docsum-citation full-citation">
|
||
|
||
|
||
|
||
<span class="docsum-authors full-authors">Phelan K, Rogers RC, Boccuto L.</span>
|
||
|
||
|
||
|
||
<span class="docsum-authors short-authors">Phelan K, et al.</span>
|
||
<span class="docsum-journal-citation full-journal-citation">2005 May 11 [updated 2024 Jun 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews<sup>®</sup> [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.</span>
|
||
<span class="docsum-journal-citation short-journal-citation">2005 May 11 [updated 2024 Jun 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews<sup>®</sup> [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.</span>
|
||
|
||
|
||
<span class="citation-part">PMID: <span class="docsum-pmid">20301377</span></span>
|
||
<span class="free-resources spaced-citation-item citation-part">Free Books & Documents.</span>
|
||
|
||
|
||
|
||
<span class="publication-type spaced-citation-item citation-part">Review.</span>
|
||
|
||
|
||
</div>
|
||
|
||
</div>
|
||
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="full-docsum">
|
||
|
||
<div class="docsum-content" style="display:inline;">
|
||
<a class="docsum-title"
|
||
href="/34081427/"
|
||
ref="article_id=34081427&linksrc=similar_articles_link&ordinalpos=2"
|
||
data-ga-category="similar_article"
|
||
data-ga-action="34081427"
|
||
data-ga-label="">
|
||
|
||
<em>SCN3A-</em>Related Neurodevelopmental Disorder.
|
||
|
||
</a>
|
||
<div class="docsum-citation full-citation">
|
||
|
||
|
||
|
||
<span class="docsum-authors full-authors">Helbig KL, Goldberg EM.</span>
|
||
|
||
|
||
|
||
<span class="docsum-authors short-authors">Helbig KL, et al.</span>
|
||
<span class="docsum-journal-citation full-journal-citation">2021 Jun 3 [updated 2021 Nov 4]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews<sup>®</sup> [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.</span>
|
||
<span class="docsum-journal-citation short-journal-citation">2021 Jun 3 [updated 2021 Nov 4]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews<sup>®</sup> [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.</span>
|
||
|
||
|
||
<span class="citation-part">PMID: <span class="docsum-pmid">34081427</span></span>
|
||
<span class="free-resources spaced-citation-item citation-part">Free Books & Documents.</span>
|
||
|
||
|
||
|
||
<span class="publication-type spaced-citation-item citation-part">Review.</span>
|
||
|
||
|
||
</div>
|
||
|
||
</div>
|
||
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="full-docsum">
|
||
|
||
<div class="docsum-content" style="display:inline;">
|
||
<a class="docsum-title"
|
||
href="/29023086/"
|
||
ref="article_id=29023086&linksrc=similar_articles_link&ordinalpos=3"
|
||
data-ga-category="similar_article"
|
||
data-ga-action="29023086"
|
||
data-ga-label="">
|
||
|
||
<em>SATB2-</em>Associated Syndrome.
|
||
|
||
</a>
|
||
<div class="docsum-citation full-citation">
|
||
|
||
|
||
|
||
<span class="docsum-authors full-authors">Zarate YA, Bosanko K, Fish J.</span>
|
||
|
||
|
||
|
||
<span class="docsum-authors short-authors">Zarate YA, et al.</span>
|
||
<span class="docsum-journal-citation full-journal-citation">2017 Oct 12 [updated 2024 Jun 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews<sup>®</sup> [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.</span>
|
||
<span class="docsum-journal-citation short-journal-citation">2017 Oct 12 [updated 2024 Jun 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews<sup>®</sup> [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.</span>
|
||
|
||
|
||
<span class="citation-part">PMID: <span class="docsum-pmid">29023086</span></span>
|
||
<span class="free-resources spaced-citation-item citation-part">Free Books & Documents.</span>
|
||
|
||
|
||
|
||
<span class="publication-type spaced-citation-item citation-part">Review.</span>
|
||
|
||
|
||
</div>
|
||
|
||
</div>
|
||
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="full-docsum">
|
||
|
||
<div class="docsum-content" style="display:inline;">
|
||
<a class="docsum-title"
|
||
href="/28749637/"
|
||
ref="article_id=28749637&linksrc=similar_articles_link&ordinalpos=4"
|
||
data-ga-category="similar_article"
|
||
data-ga-action="28749637"
|
||
data-ga-label="">
|
||
|
||
<em>SLC6A3</em>-Related Dopamine Transporter Deficiency Syndrome.
|
||
|
||
</a>
|
||
<div class="docsum-citation full-citation">
|
||
|
||
|
||
|
||
<span class="docsum-authors full-authors">Spaull RVV, Kurian MA.</span>
|
||
|
||
|
||
|
||
<span class="docsum-authors short-authors">Spaull RVV, et al.</span>
|
||
<span class="docsum-journal-citation full-journal-citation">2017 Jul 27 [updated 2023 Sep 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews<sup>®</sup> [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.</span>
|
||
<span class="docsum-journal-citation short-journal-citation">2017 Jul 27 [updated 2023 Sep 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews<sup>®</sup> [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.</span>
|
||
|
||
|
||
<span class="citation-part">PMID: <span class="docsum-pmid">28749637</span></span>
|
||
<span class="free-resources spaced-citation-item citation-part">Free Books & Documents.</span>
|
||
|
||
|
||
|
||
<span class="publication-type spaced-citation-item citation-part">Review.</span>
|
||
|
||
|
||
</div>
|
||
|
||
</div>
|
||
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<li class="full-docsum">
|
||
|
||
<div class="docsum-content" style="display:inline;">
|
||
<a class="docsum-title"
|
||
href="/32852922/"
|
||
ref="article_id=32852922&linksrc=similar_articles_link&ordinalpos=5"
|
||
data-ga-category="similar_article"
|
||
data-ga-action="32852922"
|
||
data-ga-label="">
|
||
|
||
<em>DDX3X</em>-Related Neurodevelopmental Disorder.
|
||
|
||
</a>
|
||
<div class="docsum-citation full-citation">
|
||
|
||
|
||
|
||
<span class="docsum-authors full-authors">Johnson-Kerner B, Snijders Blok L, Suit L, Thomas J, Kleefstra T, Sherr EH.</span>
|
||
|
||
|
||
|
||
<span class="docsum-authors short-authors">Johnson-Kerner B, et al.</span>
|
||
<span class="docsum-journal-citation full-journal-citation">2020 Aug 27. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews<sup>®</sup> [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.</span>
|
||
<span class="docsum-journal-citation short-journal-citation">2020 Aug 27. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews<sup>®</sup> [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.</span>
|
||
|
||
|
||
<span class="citation-part">PMID: <span class="docsum-pmid">32852922</span></span>
|
||
<span class="free-resources spaced-citation-item citation-part">Free Books & Documents.</span>
|
||
|
||
|
||
|
||
<span class="publication-type spaced-citation-item citation-part">Review.</span>
|
||
|
||
|
||
</div>
|
||
|
||
</div>
|
||
|
||
</li>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
</ul>
|
||
|
||
|
||
<div class="actions-bar">
|
||
|
||
|
||
<a
|
||
class="show-all-linked-articles"
|
||
data-href="/?linkname=pubmed_pubmed&from_uid=28448108"
|
||
data-ga-category="similar_article"
|
||
data-ga-action="show_all"
|
||
>
|
||
See all similar articles
|
||
</a>
|
||
|
||
</div>
|
||
|
||
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<div class="references" id="references">
|
||
<h2 class="title">
|
||
References
|
||
</h2>
|
||
<div id='top-references-list' class="references-lists-container">
|
||
|
||
<div class="refs-list">
|
||
|
||
|
||
|
||
|
||
|
||
<ol id="top-references-list-1" class="references-list">
|
||
|
||
|
||
|
||
|
||
|
||
<li>
|
||
<ol class="references-and-notes-list">
|
||
|
||
<li
|
||
class="skip-numbering"
|
||
value="1">
|
||
|
||
Bonaglia MC, Zanotta N, Giorda R, D'Angelo G, Zucca C. Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA. Mol Cytogenet. 2015;8:89.
|
||
|
||
|
||
|
||
-
|
||
<a
|
||
class="reference-link"
|
||
href="https://pmc.ncbi.nlm.nih.gov/articles/PMC4650292/"
|
||
ref="linksrc=references_link&ordinalpos=1"
|
||
data-ga-category="reference"
|
||
data-ga-action="PMC4650292"
|
||
>
|
||
PMC
|
||
</a>
|
||
|
||
|
||
|
||
|
||
|
||
-
|
||
<a
|
||
class="reference-link"
|
||
href="/26582469/"
|
||
ref="linksrc=references_link&ordinalpos=2"
|
||
data-ga-category="reference"
|
||
data-ga-action="26582469"
|
||
>
|
||
PubMed
|
||
</a>
|
||
|
||
|
||
|
||
|
||
</li>
|
||
|
||
</ol>
|
||
</li>
|
||
|
||
<li>
|
||
<ol class="references-and-notes-list">
|
||
|
||
<li
|
||
class="skip-numbering"
|
||
value="1">
|
||
|
||
Brown N, Burgess T, Forbes R, McGillivray G, Kornberg A, Mandelstam S, Starl Z. 5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases. Am J Med Genet A. 2013;161A:2604–8.
|
||
|
||
|
||
|
||
-
|
||
<a
|
||
class="reference-link"
|
||
href="/23950017/"
|
||
ref="linksrc=references_link&ordinalpos=1"
|
||
data-ga-category="reference"
|
||
data-ga-action="23950017"
|
||
>
|
||
PubMed
|
||
</a>
|
||
|
||
|
||
|
||
|
||
</li>
|
||
|
||
</ol>
|
||
</li>
|
||
|
||
<li>
|
||
<ol class="references-and-notes-list">
|
||
|
||
<li
|
||
class="skip-numbering"
|
||
value="1">
|
||
|
||
Graebsch A, Roche S, Niessing D. X-ray structure of Pur-alpha reveals a Whirly-like fold and an unusual nucleic-acid binding surface. Proc Natl Acad Sci U S A. 2009;106:18521–6.
|
||
|
||
|
||
|
||
-
|
||
<a
|
||
class="reference-link"
|
||
href="https://pmc.ncbi.nlm.nih.gov/articles/PMC2765457/"
|
||
ref="linksrc=references_link&ordinalpos=1"
|
||
data-ga-category="reference"
|
||
data-ga-action="PMC2765457"
|
||
>
|
||
PMC
|
||
</a>
|
||
|
||
|
||
|
||
|
||
|
||
-
|
||
<a
|
||
class="reference-link"
|
||
href="/19846792/"
|
||
ref="linksrc=references_link&ordinalpos=2"
|
||
data-ga-category="reference"
|
||
data-ga-action="19846792"
|
||
>
|
||
PubMed
|
||
</a>
|
||
|
||
|
||
|
||
|
||
</li>
|
||
|
||
</ol>
|
||
</li>
|
||
|
||
<li>
|
||
<ol class="references-and-notes-list">
|
||
|
||
<li
|
||
class="skip-numbering"
|
||
value="1">
|
||
|
||
Hokkanen S, Feldmann HM, Ding H, Jung CK, Bojarski L, Renner-Müller I, Schüller U, Kretzschmar H, Wolf E, Herms J. Lack of Pur-alpha alters postnatal brain development and causes megalencephaly. Hum Mol Genet. 2012;21:473–84.
|
||
|
||
|
||
|
||
-
|
||
<a
|
||
class="reference-link"
|
||
href="/22010047/"
|
||
ref="linksrc=references_link&ordinalpos=1"
|
||
data-ga-category="reference"
|
||
data-ga-action="22010047"
|
||
>
|
||
PubMed
|
||
</a>
|
||
|
||
|
||
|
||
|
||
</li>
|
||
|
||
</ol>
|
||
</li>
|
||
|
||
<li>
|
||
<ol class="references-and-notes-list">
|
||
|
||
<li
|
||
class="skip-numbering"
|
||
value="1">
|
||
|
||
Hosoki K, Ohta T, Natsume J, Imai S, Okumura A, Matsui T, Harda N, Bacino CA, Scaglia F, Jones JY, Niikawa N, Saitoh S. Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome. Am J Med Genet A. 2012;158A:1891–6.
|
||
|
||
|
||
|
||
-
|
||
<a
|
||
class="reference-link"
|
||
href="/22711443/"
|
||
ref="linksrc=references_link&ordinalpos=1"
|
||
data-ga-category="reference"
|
||
data-ga-action="22711443"
|
||
>
|
||
PubMed
|
||
</a>
|
||
|
||
|
||
|
||
|
||
</li>
|
||
|
||
</ol>
|
||
</li>
|
||
|
||
|
||
</ol>
|
||
|
||
|
||
<div class="actions-bar">
|
||
|
||
<button
|
||
class="show-all"
|
||
ref="linksrc=show_all_references_link"
|
||
aria-controls="top-references-list-1"
|
||
|
||
data-next-page-url="/28448108/references/"
|
||
data-ga-category="reference"
|
||
data-ga-action="show_more"
|
||
>
|
||
Show all 15 references
|
||
</button>
|
||
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
<div id="publication-types" class="publication-types keywords-section">
|
||
<h2 class="title">
|
||
Publication types
|
||
</h2>
|
||
|
||
<ul class="keywords-list"><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Review"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-publication-types-0"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Review
|
||
</button><div id="keyword-actions-publication-types-0"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Review"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Review%22%5Bpt%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Review%22%5Bpt%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&keyword="Review"[pt]"
|
||
data-ga-category="search"
|
||
data-ga-action="pub_type"
|
||
data-ga-label="Review">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Review"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="pub_type_link"
|
||
data-ga-label="Review">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Review"[pt]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Review"[pt]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li></ul>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<div id="related-links" class="related-links">
|
||
<h2 class="title">
|
||
Related information
|
||
</h2>
|
||
|
||
<ul class="related-links-list"><li><a title="Clinical variations associated with publication" href="https://www.ncbi.nlm.nih.gov/clinvar?linkname=pubmed_clinvar&from_uid=28448108"
|
||
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=28448108&ordinalpos=1&linkpos=1">
|
||
ClinVar
|
||
</a></li><li><a title="Link to related Genes" href="https://www.ncbi.nlm.nih.gov/gene?linkname=pubmed_gene&from_uid=28448108"
|
||
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=28448108&ordinalpos=1&linkpos=2">
|
||
Gene
|
||
</a></li><li><a title="Gene records in this citation" href="https://www.ncbi.nlm.nih.gov/gene?linkname=pubmed_gene_bookrecords&from_uid=28448108"
|
||
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=28448108&ordinalpos=1&linkpos=3">
|
||
Gene (from Bookshelf)
|
||
</a></li><li><a title="Related information in MedGen" href="https://www.ncbi.nlm.nih.gov/medgen?linkname=pubmed_medgen&from_uid=28448108"
|
||
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=28448108&ordinalpos=1&linkpos=4">
|
||
MedGen
|
||
</a></li><li><a title="Related MedGen records" href="https://www.ncbi.nlm.nih.gov/medgen?linkname=pubmed_medgen_genereviews&from_uid=28448108"
|
||
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=28448108&ordinalpos=1&linkpos=5">
|
||
MedGen (GeneReviews)
|
||
</a></li><li><a title="Published Nucleotide sequences" href="https://www.ncbi.nlm.nih.gov/nuccore?linkname=pubmed_nuccore&from_uid=28448108"
|
||
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=28448108&ordinalpos=1&linkpos=6">
|
||
Nucleotide
|
||
</a></li><li><a title="OMIM records in this citation" href="https://www.ncbi.nlm.nih.gov/omim?linkname=pubmed_omim_bookrecords&from_uid=28448108"
|
||
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=28448108&ordinalpos=1&linkpos=7">
|
||
OMIM (from Bookshelf)
|
||
</a></li><li><a title="Published protein sequences" href="https://www.ncbi.nlm.nih.gov/protein?linkname=pubmed_protein&from_uid=28448108"
|
||
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=28448108&ordinalpos=1&linkpos=8">
|
||
Protein
|
||
</a></li><li><a title="Link to Protein RefSeqs" href="https://www.ncbi.nlm.nih.gov/protein?linkname=pubmed_protein_refseq&from_uid=28448108"
|
||
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=28448108&ordinalpos=1&linkpos=9">
|
||
Protein (RefSeq)
|
||
</a></li><li><a title="Link from PubMed to dbVar" href="https://www.ncbi.nlm.nih.gov/dbvar?linkname=pubmed_dbvar&from_uid=28448108"
|
||
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=28448108&ordinalpos=1&linkpos=10">
|
||
dbVar
|
||
</a></li></ul>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<div id="linkout" class="linkout">
|
||
<h2 class="title">
|
||
LinkOut - more resources
|
||
</h2>
|
||
|
||
<ul class="linkout-list"><li><h3 class="linkout-category">Full Text Sources</h3><ul class="linkout-category-links"><li><a
|
||
href="https://www.ncbi.nlm.nih.gov/books/NBK426063"
|
||
target="_blank"
|
||
rel="noopener"
|
||
ref="linksrc=linkout_link&PrId=3057&uid=28448108&db=pubmed&itool=Abstract&log$=linkoutlink"
|
||
data-ga-category="link_out"
|
||
data-ga-action="Full Text Sources"
|
||
data-ga-label="NCBI Bookshelf"
|
||
>
|
||
NCBI Bookshelf
|
||
</a></li></ul></li><li><h3 class="linkout-category">Medical</h3><ul class="linkout-category-links"><li><a
|
||
href="https://medlineplus.gov/genetics/condition/pura-syndrome"
|
||
target="_blank"
|
||
rel="noopener"
|
||
ref="linksrc=linkout_link&PrId=3162&uid=28448108&db=pubmed&itool=Abstract&log$=linkoutlink"
|
||
data-ga-category="link_out"
|
||
data-ga-action="Medical"
|
||
data-ga-label="MedlinePlus Health Information"
|
||
>
|
||
MedlinePlus Health Information
|
||
</a></li></ul></li></ul>
|
||
</div>
|
||
|
||
|
||
</main>
|
||
|
||
|
||
<div class="overlay" role="dialog" aria-label="Full Text Links Dialog">
|
||
<div id="full-text-links-dialog" class="dialog full-text-links-dialog">
|
||
<strong class="title">Full text links</strong>
|
||
<button class="close-overlay" tabindex="2">[x]</button>
|
||
<div class="full-text-links-list">
|
||
<a class="link-item
|
||
book
|
||
dialog-focus"
|
||
href="https://www.ncbi.nlm.nih.gov/books/NBK426063"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=False&PrId=3057&itool=Abstract-def&log$=linkouticon&uid=28448108&db=pubmed"
|
||
title="See full text options at NCBI Bookshelf"
|
||
tabindex="1"
|
||
data-ga-category="full_text"
|
||
data-ga-action="NCBI Bookshelf"
|
||
data-ga-label="28448108"
|
||
><img class="book-icon" src="https://cdn.ncbi.nlm.nih.gov/corehtml/pmc/pmcgifs/bookshelf/thumbs/th-gene.png" alt="book cover photo"><div class="book-icon-label"><div class="book-icon-label-title">GeneReviews<sup>®</sup> [Internet]</div></div><span class="text">
|
||
|
||
NCBI Bookshelf
|
||
|
||
</span></a>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="overlay" role="dialog" aria-label="Citation Dialog">
|
||
<div class="dialog citation-dialog">
|
||
<button class="close-overlay" tabindex="1">[x]</button>
|
||
<div class="title">Cite</div>
|
||
<div class="citation-text-block">
|
||
<div class="citation-text"></div>
|
||
<div class="citation-actions">
|
||
<button
|
||
class="copy-button dialog-focus"
|
||
data-ga-category="save_share"
|
||
data-ga-action="cite"
|
||
data-ga-label="copy"
|
||
tabindex="2">
|
||
Copy
|
||
</button>
|
||
|
||
<form method="post">
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="vmVafCL51Xqna7089s1MaxXREGs7UqCpM9FfSserBydR4y6YMLEOEFtvcKajN1aJ">
|
||
<button type="submit"
|
||
class="export-button"
|
||
data-ga-category="save_share"
|
||
data-ga-action="cite"
|
||
data-ga-label="download"
|
||
title="Download a file for external citation management software"
|
||
tabindex="3">
|
||
<span class="download-title">Download .nbib</span>
|
||
<span class="download-title-mobile">.nbib</span>
|
||
</button>
|
||
</form>
|
||
|
||
|
||
|
||
|
||
<div class="citation-style-selector-wrapper">
|
||
<label class="selector-label">Format:</label>
|
||
<select aria-label="Format" class="citation-style-selector" tabindex="4">
|
||
|
||
<option data-style-url-name="ama"
|
||
value="AMA"
|
||
>
|
||
AMA
|
||
</option>
|
||
|
||
<option data-style-url-name="apa"
|
||
value="APA"
|
||
>
|
||
APA
|
||
</option>
|
||
|
||
<option data-style-url-name="mla"
|
||
value="MLA"
|
||
>
|
||
MLA
|
||
</option>
|
||
|
||
<option data-style-url-name="nlm"
|
||
value="NLM"
|
||
selected="selected">
|
||
NLM
|
||
</option>
|
||
|
||
</select>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="overlay" role="dialog" aria-label="More Actions Dialog">
|
||
<div id="more-actions-dialog" class="dialog more-actions-dialog">
|
||
<strong class="title">Send To</strong>
|
||
<ul class="more-actions-links">
|
||
|
||
<li><a id="clipboard-trigger" role="button" class="submit-button clipboard-trigger clipboard-trigger-target dialog-focus link-item " href="#">Clipboard</a></li>
|
||
|
||
<li><a class="email-trigger link-item" role="button" href="#">Email</a></li>
|
||
<li><a class="save-trigger link-item" role="button" href="#">Save</a></li>
|
||
|
||
<li><a class="link-item" role="button" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F28448108%2F%23open-bibliography-panel">My Bibliography</a></li>
|
||
<li><a class="link-item" role="button" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F28448108%2F%23open-collections-panel">Collections</a></li>
|
||
|
||
<li><a class="citation-manager-trigger link-item" role="button" href="#">Citation Manager</a></li>
|
||
</ul>
|
||
<button class="close-overlay">[x]</button>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<div id="ncbi-footer">
|
||
<div class="literature-footer" role="complementary" title="Links to NCBI Literature Resources">
|
||
<div class="usa-grid">
|
||
<p class="literature-footer-text">NCBI Literature Resources</p>
|
||
<p class="literature-footer-text">
|
||
<a class="literature-footer-link" data-ga-category="literature_resources" data-ga-action="mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh/">MeSH</a>
|
||
<a class="literature-footer-link" data-ga-category="literature_resources" data-ga-action="pmc_link" href="https://www.ncbi.nlm.nih.gov/pmc/">PMC</a>
|
||
<a class="literature-footer-link" data-ga-category="literature_resources" data-ga-action="bookshelf_link" href="https://www.ncbi.nlm.nih.gov/books">Bookshelf</a>
|
||
<a class="literature-footer-link" data-ga-category="literature_resources" data-ga-action="disclaimer_link" href="/disclaimer/">Disclaimer</a>
|
||
</p>
|
||
<p class="literature-footer-text attribution-statement">The PubMed wordmark and PubMed logo are registered trademarks of the U.S. Department of Health and Human Services (HHS). Unauthorized use of these marks is strictly prohibited.</p>
|
||
</div>
|
||
</div>
|
||
<!-- ========== BEGIN FOOTER ========== -->
|
||
<footer>
|
||
<section class="icon-section">
|
||
<div id="icon-section-header" class="icon-section_header">Follow NCBI</div>
|
||
<div class="grid-container container">
|
||
<div class="icon-section_container">
|
||
<a class="footer-icon" id="footer_twitter" href="https://twitter.com/ncbi" aria-label="Twitter">
|
||
<svg width="40" height="40" viewBox="0 0 40 37" fill="none" xmlns="http://www.w3.org/2000/svg">
|
||
<title>Twitter</title>
|
||
<g id="twitterx1008">
|
||
<path id="path1008"
|
||
d="M6.06736 7L16.8778 20.8991L6.00001 32.2H10.2L18.6 23.1L25.668 32.2H34L22.8 17.5L31.9 7H28.4L20.7 15.4L14.401 7H6.06898H6.06736ZM9.66753 8.73423H12.9327L29.7327 30.4658H26.5697L9.66753 8.73423Z"
|
||
fill="#5B616B"/>
|
||
</g>
|
||
</svg>
|
||
</a>
|
||
<a class="footer-icon" id="footer_facebook" href="https://www.facebook.com/ncbi.nlm" aria-label="Facebook"><svg
|
||
data-name="Layer 1" xmlns="http://www.w3.org/2000/svg" viewBox="0 0 300 300">
|
||
<title>Facebook</title>
|
||
<path class="cls-11"
|
||
d="M210.5,115.12H171.74V97.82c0-8.14,5.39-10,9.19-10h27.14V52l-39.32-.12c-35.66,0-42.42,26.68-42.42,43.77v19.48H99.09v36.32h27.24v109h45.41v-109h35Z">
|
||
</path>
|
||
</svg></a>
|
||
<a class="footer-icon" id="footer_linkedin"
|
||
href="https://www.linkedin.com/company/ncbinlm"
|
||
aria-label="LinkedIn"><svg data-name="Layer 1" xmlns="http://www.w3.org/2000/svg" viewBox="0 0 300 300">
|
||
<title>LinkedIn</title>
|
||
<path class="cls-11"
|
||
d="M101.64,243.37H57.79v-114h43.85Zm-22-131.54h-.26c-13.25,0-21.82-10.36-21.82-21.76,0-11.65,8.84-21.15,22.33-21.15S101.7,78.72,102,90.38C102,101.77,93.4,111.83,79.63,111.83Zm100.93,52.61A17.54,17.54,0,0,0,163,182v61.39H119.18s.51-105.23,0-114H163v13a54.33,54.33,0,0,1,34.54-12.66c26,0,44.39,18.8,44.39,55.29v58.35H198.1V182A17.54,17.54,0,0,0,180.56,164.44Z">
|
||
</path>
|
||
</svg></a>
|
||
<a class="footer-icon" id="footer_github" href="https://github.com/ncbi" aria-label="GitHub"><svg
|
||
data-name="Layer 1" xmlns="http://www.w3.org/2000/svg" viewBox="0 0 300 300">
|
||
<defs>
|
||
<style>
|
||
.cls-11,
|
||
.cls-12 {
|
||
fill: #737373;
|
||
}
|
||
|
||
.cls-11 {
|
||
fill-rule: evenodd;
|
||
}
|
||
</style>
|
||
</defs>
|
||
<title>GitHub</title>
|
||
<path class="cls-11"
|
||
d="M151.36,47.28a105.76,105.76,0,0,0-33.43,206.1c5.28,1,7.22-2.3,7.22-5.09,0-2.52-.09-10.85-.14-19.69-29.42,6.4-35.63-12.48-35.63-12.48-4.81-12.22-11.74-15.47-11.74-15.47-9.59-6.56.73-6.43.73-6.43,10.61.75,16.21,10.9,16.21,10.9,9.43,16.17,24.73,11.49,30.77,8.79,1-6.83,3.69-11.5,6.71-14.14C108.57,197.1,83.88,188,83.88,147.51a40.92,40.92,0,0,1,10.9-28.39c-1.1-2.66-4.72-13.42,1-28,0,0,8.88-2.84,29.09,10.84a100.26,100.26,0,0,1,53,0C198,88.3,206.9,91.14,206.9,91.14c5.76,14.56,2.14,25.32,1,28a40.87,40.87,0,0,1,10.89,28.39c0,40.62-24.74,49.56-48.29,52.18,3.79,3.28,7.17,9.71,7.17,19.58,0,14.15-.12,25.54-.12,29,0,2.82,1.9,6.11,7.26,5.07A105.76,105.76,0,0,0,151.36,47.28Z">
|
||
</path>
|
||
<path class="cls-12"
|
||
d="M85.66,199.12c-.23.52-1.06.68-1.81.32s-1.2-1.06-.95-1.59,1.06-.69,1.82-.33,1.21,1.07.94,1.6Zm-1.3-1">
|
||
</path>
|
||
<path class="cls-12"
|
||
d="M90,203.89c-.51.47-1.49.25-2.16-.49a1.61,1.61,0,0,1-.31-2.19c.52-.47,1.47-.25,2.17.49s.82,1.72.3,2.19Zm-1-1.08">
|
||
</path>
|
||
<path class="cls-12"
|
||
d="M94.12,210c-.65.46-1.71,0-2.37-.91s-.64-2.07,0-2.52,1.7,0,2.36.89.65,2.08,0,2.54Zm0,0"></path>
|
||
<path class="cls-12"
|
||
d="M99.83,215.87c-.58.64-1.82.47-2.72-.41s-1.18-2.06-.6-2.7,1.83-.46,2.74.41,1.2,2.07.58,2.7Zm0,0">
|
||
</path>
|
||
<path class="cls-12"
|
||
d="M107.71,219.29c-.26.82-1.45,1.2-2.64.85s-2-1.34-1.74-2.17,1.44-1.23,2.65-.85,2,1.32,1.73,2.17Zm0,0">
|
||
</path>
|
||
<path class="cls-12"
|
||
d="M116.36,219.92c0,.87-1,1.59-2.24,1.61s-2.29-.68-2.3-1.54,1-1.59,2.26-1.61,2.28.67,2.28,1.54Zm0,0">
|
||
</path>
|
||
<path class="cls-12"
|
||
d="M124.42,218.55c.15.85-.73,1.72-2,1.95s-2.37-.3-2.52-1.14.73-1.75,2-2,2.37.29,2.53,1.16Zm0,0"></path>
|
||
</svg></a>
|
||
<a class="footer-icon" id="footer_blog" href="https://ncbiinsights.ncbi.nlm.nih.gov/" aria-label="Blog">
|
||
<svg id="Layer_1" data-name="Layer 1" xmlns="http://www.w3.org/2000/svg" viewBox="0 0 40 40"><defs><style>.cls-1{fill:#737373;}</style></defs><path class="cls-1" d="M14,30a4,4,0,1,1-4-4,4,4,0,0,1,4,4Zm11,3A19,19,0,0,0,7.05,15a1,1,0,0,0-1,1v3a1,1,0,0,0,.93,1A14,14,0,0,1,20,33.07,1,1,0,0,0,21,34h3a1,1,0,0,0,1-1Zm9,0A28,28,0,0,0,7,6,1,1,0,0,0,6,7v3a1,1,0,0,0,1,1A23,23,0,0,1,29,33a1,1,0,0,0,1,1h3A1,1,0,0,0,34,33Z"/></svg>
|
||
</a>
|
||
</div>
|
||
</div>
|
||
</section>
|
||
|
||
<section class="container-fluid bg-primary">
|
||
<div class="container pt-5">
|
||
<div class="row mt-3">
|
||
<div class="col-lg-3 col-12">
|
||
<p><a class="text-white" href="https://www.nlm.nih.gov/socialmedia/index.html">Connect with NLM</a></p>
|
||
<ul class="list-inline social_media">
|
||
<li class="list-inline-item"><a href="https://twitter.com/NLM_NIH" aria-label="Twitter"
|
||
target="_blank" rel="noopener noreferrer">
|
||
<svg width="35" height="35" viewBox="0 0 38 35" fill="none" xmlns="http://www.w3.org/2000/svg">
|
||
<title>Twitter</title>
|
||
<g id="twitterx1009" clip-path="url(#clip0_65276_3946)">
|
||
<path id="Vector" d="M17.5006 34.6565C26.9761 34.6565 34.6575 26.9751 34.6575 17.4996C34.6575 8.02416 26.9761 0.342773 17.5006 0.342773C8.02514 0.342773 0.34375 8.02416 0.34375 17.4996C0.34375 26.9751 8.02514 34.6565 17.5006 34.6565Z" fill="#205493" stroke="white" stroke-width="1.2" stroke-miterlimit="10"></path>
|
||
<path id="path1009" d="M8.54811 8.5L16.2698 18.4279L8.50001 26.5H11.5L17.5 20L22.5486 26.5H28.5L20.5 16L27 8.5H24.5L19 14.5L14.5007 8.5H8.54927H8.54811ZM11.1197 9.73873H13.4519L25.4519 25.2613H23.1926L11.1197 9.73873Z" fill="white"></path>
|
||
</g>
|
||
<defs>
|
||
<clipPath id="clip0_65276_3946">
|
||
<rect width="38" height="38" fill="white"></rect>
|
||
</clipPath>
|
||
</defs>
|
||
</svg></a>
|
||
</li>
|
||
<li class="list-inline-item"><a href="https://www.facebook.com/nationallibraryofmedicine"
|
||
aria-label="Facebook" rel="noopener noreferrer" target="_blank">
|
||
<svg version="1.1" xmlns="http://www.w3.org/2000/svg" xmlns:xlink="http://www.w3.org/1999/xlink" x="0px"
|
||
y="0px" viewBox="0 0 249 249" style="enable-background:new 0 0 249 249;" xml:space="preserve">
|
||
<style type="text/css">
|
||
.st10 {
|
||
fill: #FFFFFF;
|
||
}
|
||
|
||
.st110 {
|
||
fill: none;
|
||
stroke: #FFFFFF;
|
||
stroke-width: 8;
|
||
stroke-miterlimit: 10;
|
||
}
|
||
</style>
|
||
<title>SM-Facebook</title>
|
||
<g>
|
||
<g>
|
||
<path class="st10" d="M159,99.1h-24V88.4c0-5,3.3-6.2,5.7-6.2h16.8V60l-24.4-0.1c-22.1,0-26.2,16.5-26.2,27.1v12.1H90v22.5h16.9
|
||
v67.5H135v-67.5h21.7L159,99.1z"></path>
|
||
</g>
|
||
</g>
|
||
<circle class="st110" cx="123.6" cy="123.2" r="108.2"></circle>
|
||
</svg>
|
||
</a></li>
|
||
<li class="list-inline-item"><a href="https://www.youtube.com/user/NLMNIH" aria-label="Youtube"
|
||
target="_blank" rel="noopener noreferrer"><svg version="1.1" xmlns="http://www.w3.org/2000/svg"
|
||
xmlns:xlink="http://www.w3.org/1999/xlink" x="0px" y="0px" viewBox="0 0 249 249"
|
||
style="enable-background:new 0 0 249 249;" xml:space="preserve">
|
||
<title>SM-Youtube</title>
|
||
<style type="text/css">
|
||
.st4 {
|
||
fill: none;
|
||
stroke: #FFFFFF;
|
||
stroke-width: 8;
|
||
stroke-miterlimit: 10;
|
||
}
|
||
|
||
.st5 {
|
||
fill: #FFFFFF;
|
||
}
|
||
</style>
|
||
<circle class="st4" cx="124.2" cy="123.4" r="108.2"></circle>
|
||
<g transform="translate(0,-952.36218)">
|
||
<path class="st5"
|
||
d="M88.4,1037.4c-10.4,0-18.7,8.3-18.7,18.7v40.1c0,10.4,8.3,18.7,18.7,18.7h72.1c10.4,0,18.7-8.3,18.7-18.7
|
||
v-40.1c0-10.4-8.3-18.7-18.7-18.7H88.4z M115.2,1058.8l29.4,17.4l-29.4,17.4V1058.8z"></path>
|
||
</g>
|
||
</svg></a></li>
|
||
</ul>
|
||
</div>
|
||
<div class="col-lg-3 col-12">
|
||
<p class="address_footer text-white">National Library of Medicine<br>
|
||
<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323"
|
||
class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br>
|
||
Bethesda, MD 20894</a></p>
|
||
</div>
|
||
<div class="col-lg-3 col-12 centered-lg">
|
||
<p><a href="https://www.nlm.nih.gov/web_policies.html" class="text-white">Web Policies</a><br>
|
||
<a href="https://www.nih.gov/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office"
|
||
class="text-white">FOIA</a><br>
|
||
<a href="https://www.hhs.gov/vulnerability-disclosure-policy/index.html" class="text-white" id="vdp">HHS Vulnerability Disclosure</a></p>
|
||
</div>
|
||
<div class="col-lg-3 col-12 centered-lg">
|
||
<p><a class="supportLink text-white" href="https://support.nlm.nih.gov/">Help</a><br>
|
||
<a href="https://www.nlm.nih.gov/accessibility.html" class="text-white">Accessibility</a><br>
|
||
<a href="https://www.nlm.nih.gov/careers/careers.html" class="text-white">Careers</a></p>
|
||
</div>
|
||
</div>
|
||
<div class="row">
|
||
<div class="col-lg-12 centered-lg">
|
||
<nav class="bottom-links">
|
||
<ul class="mt-3">
|
||
<li>
|
||
<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white"
|
||
href="https://www.nih.gov/">NIH</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.hhs.gov/">HHS</a>
|
||
</li>
|
||
<li>
|
||
<a
|
||
class="text-white" href="https://www.usa.gov/">USA.gov</a>
|
||
</li>
|
||
</ul>
|
||
</nav>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</section>
|
||
</footer>
|
||
<!-- ========== END FOOTER ========== -->
|
||
<!-- javascript to inject NWDS meta tags. Note: value of nwds_version is updated by "npm version" command -->
|
||
|
||
<script type="text/javascript">
|
||
var nwds_version = "1.2.3";
|
||
|
||
var meta_nwds_ver = document.createElement('meta');
|
||
meta_nwds_ver.name = 'ncbi_nwds_ver';
|
||
meta_nwds_ver.content = nwds_version;
|
||
document.getElementsByTagName('head')[0].appendChild(meta_nwds_ver);
|
||
|
||
var meta_nwds = document.createElement('meta');
|
||
meta_nwds.name = 'ncbi_nwds';
|
||
meta_nwds.content = 'yes';
|
||
document.getElementsByTagName('head')[0].appendChild(meta_nwds);
|
||
|
||
var alertsUrl = "/core/alerts/alerts.js";
|
||
if (typeof ncbiBaseUrl !== 'undefined') {
|
||
alertsUrl = ncbiBaseUrl + alertsUrl;
|
||
}
|
||
</script>
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<!-- jQuery with plugins -->
|
||
|
||
|
||
<script src="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/js/output.293fbf76aa18.js"></script>
|
||
|
||
|
||
|
||
|
||
<!-- Project base scripts -->
|
||
|
||
<script src="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/js/output.550e9c8906a2.js"></script>
|
||
|
||
|
||
<script>
|
||
ncbi.awesome.basePage.init({
|
||
userInfo: {
|
||
isLoggedIn: false,
|
||
username: "",
|
||
loginUrl: "https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F28448108%2F",
|
||
logoutUrl: "https://www.ncbi.nlm.nih.gov/account/signout/?back_url=https%3A//pubmed.ncbi.nlm.nih.gov/28448108/"
|
||
},
|
||
baseUrl: 'https://www.ncbi.nlm.nih.gov',
|
||
noSessionCookieName: "pm-ns",
|
||
searchIdCookieName: "pm-sid",
|
||
adjNavSearchIdCookieName: "pm-adjnav-sid",
|
||
searchFormSubmittedCookieName: "pm-sfs",
|
||
isOnSearchPageCookieName: "pm-iosp",
|
||
backToSearchCookieName: "pm-btsl",
|
||
clinicalSeeAllCookieName: "pm-csa",
|
||
jsCookieDomain: "pubmed.ncbi.nlm.nih.gov",
|
||
userShareRequestFailed: "",
|
||
noSharedSettings: "myncbi_no_shared_settings",
|
||
noSharedAccount: "myncbi_no_shared_account"
|
||
});
|
||
</script>
|
||
|
||
<script type="module">
|
||
import dismissableNCBIAlert from "https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/core/dismissable-ncbi-alert.js";
|
||
|
||
jQuery.getScript("https://www.ncbi.nlm.nih.gov/core/alerts/alerts.js", function () {
|
||
galert(['body > *:last-child']);
|
||
dismissableNCBIAlert();
|
||
}).fail(function() {
|
||
});
|
||
</script>
|
||
|
||
|
||
<script defer type="text/javascript" src="https://cdn.ncbi.nlm.nih.gov/core/pinger/pinger.js"> </script>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<script src="https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/CACHE/js/output.e3950ac8c6da.js"></script>
|
||
|
||
|
||
|
||
|
||
<script>
|
||
ncbi.awesome.articlePage.init({
|
||
baseSuggestionsUrl: "/suggestions/",
|
||
mathJaxUrl: "https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/mathjax/unpacked/MathJax.js?config=MML_CHTML",
|
||
clipboardAPIRoot: "/ajax/clipboard/",
|
||
clipboardNextPageUrl: "/clipboard-next-page/",
|
||
searchIdCookieName: "pm-sid",
|
||
searchFormSubmittedCookieName: "pm-sfs",
|
||
backToSearchCookieName: "pm-btsl",
|
||
jsCookieDomain: "pubmed.ncbi.nlm.nih.gov",
|
||
longTermPrefix: "longquery",
|
||
adjNavURLPath: "/28448108/adj-nav/",
|
||
adjNavSearchIdCookieName: "pm-adjnav-sid",
|
||
articlePageUrl: "/28448108/",
|
||
markJSUrl: "https://cdn.ncbi.nlm.nih.gov/pubmed/277eb475-38df-4990-a0ee-0080b04e86fc/mark.js/dist/jquery.mark.js",
|
||
termHighlightColor: "",
|
||
highlightedTokens: "",
|
||
citeFormatPreferenceCookieName: "pm-cf"
|
||
});
|
||
</script>
|
||
|
||
</body>
|
||
</html> |